Perinatal management of pregnancies with severe fetal heart defects and epigenetic aspects

Objective: To describe pregnancies with severe fetal heart defects (CHD) with respect to perinatal complications and management. To discuss epigenetic factors with respect to maternal body mass index (BMI) and assisted reproduction treatment (ART). Methods: We performed a retrospective analysis in a single centre for prenatal diagnostics. Data were collected with respect to pre- and postnatal diagnoses of CHD, preterm labour and deliveries, maternal risk factors and postnatal outcome. Results: Between 2009 and 2011 we treated 116 patients with severe fetal heart defects. Prenatal diagnoses were: Hypoplastic left heart syndrome (HLHS) in 50 fetuses (43.1%), conotruncal heart defects (CTM) in 43 (37.1%), atrial ventricular septal defects in eight cases (7.8%).There were 11 (9.9%) twin pregnancies. Premature labour occurred in 11.2%, premature deliveries 12.9%. Nine pregnancies (7.8%) were achieved by assisted reproduction treatment (ART). A body mass index (BMI) > 25 occurred in 54.3% with 3% morbid obesity. Advanced maternal age >35 was found in 33.5%. Accuracy of the prenatal diagnosis was 97%. Conclusions: Patients with ART pregnancies may be referred to fetal echocardiography. Maternal obesity poses a diagnostic problem, the incidence of CTM may be higher due to epigenetic factors. This requires further studies. As premature labour and delivery is a frequent complication, perinatal management of these pregnancies must be reserved to specialized centers.     

Cytogenetic findings and reproductive outcome of infertile couples referred to an assisted reproduction program

It is still undefined whether all the couples entering an assisted reproduction program should undergo to karyotype analysis. The present study was conducted to determine the prevalence of chromosomal abnormalities in a non-selected sample of 1,146 couples referred to assisted reproduction technologies (ART), and to analyze the outcome of pregnancies from couples in whom cytogenetic anomalies were detected. Irrespective of the infertility factor, fertilization was achieved by intracytoplasmic sperm injection (ICSI). A total number of 35 karyotype anomalies were diagnosed, corresponding to an abnormality frequency of 1.52% (1.83% for men and 1.22% for women). As could be expected, the majority of men presenting katyotype anomalies had a low sperm count. Among women, the majority of cytogenetic anomalies were detected in individual not presenting risk factors for aberrant karyotype. Around 41% of pregnancies achieved in couples presenting chromosomal anomalies ended in spontaneous abortion. Information on fetal karyotype was limited. No major malformations were observed among newborns from parents with abnormal karyotype. In consideration of the elevated frequency of pregnancy loss, it seems advisable to recommend that chromosomal analysis be performed in all couples undergoing ART. This with the aim of identifying patients that would possibly benefit from pre-implantation genetic diagnosis.     

Hydramnios: anomaly prevalence and sonographic detection

OBJECTIVE: To characterize the prevalence and ultrasound detection of fetal anomalies in pregnancies with hydramnios, and to estimate anomaly and aneuploidy risks when no sonographic abnormality is noted. METHODS: This was a retrospective cohort study of singleton pregnancies with hydramnios. Hydramnios was categorized as mild, moderate, or severe based on greatest amniotic fluid index of 25.0-29.9 cm, 30.0-34.9 cm, or 35.0 cm or more, respectively. Antenatal anomaly detection was compared with assessment in the immediate neonatal period. Aneuploidy and fetal deaths were analyzed separately. RESULTS: Hydramnios was diagnosed in 672 pregnancies, and 77 (11%) of neonates had one or more anomalies. Though more severe hydramnios was associated with higher likelihood of anomaly (P <.001), sonographic anomaly detection (79%) did not differ according to degree of hydramnios (P =.4). Of anomalies which eluded sonographic diagnosis, cardiac septal defects, cleft palate, imperforate anus, and tracheoesophageal fistula were the most frequent. If sonographic evaluation was normal, the risk of a major anomaly was 1% with mild hydramnios, 2% with moderate hydramnios, and 11% with severe hydramnios (P <.001). Aneuploidy was present in 10% of fetuses with sonographic anomalies and 1% without apparent sonographic anomalies. The fetal death rate was 4% in the setting of hydramnios; 60% of these cases had anomalies. CONCLUSION: The anomaly detection rate in pregnancies with hydramnios was nearly 80%, irrespective of the degree of amniotic fluid increase. Residual anomaly risk after normal sonographic evaluation was 2% or less if hydramnios was mild or moderate and 11% if severe.     

No difference in congenital anomalies prevalence irrespective of insemination methods and freezing procedure: cohort study over fourteen years of an ART population in the south of France

Purpose

A retrospective cohort study was conducted to evaluate and compare the prevalence of congenital anomalies in babies and fetuses conceived after four procedures of assisted reproduction technologies (ART).

Methods

The prevalence of congenital anomalies was compared retrospectively between 2750 babies and fetuses conceived between 2001 and 2014 in vitro fertilization with standard insemination (IVF), IVF with intracytoplasmic sperm injection (ICSI), IVF with frozen embryo transfer (FET-IVF), and ICSI with frozen embryo transfer (FET-ICSI). Congenital anomalies were described according to European Surveillance of Congenital Anomalies (EUROCAT) classification. The parental backgrounds, biologic parameters, obstetric parameters, and perinatal outcomes were compared between babies and fetuses with and without congenital anomalies. Data were analyzed by the generalized estimating equation.

Results

Between 2001 and 2014, a total of 2477 evolutionary pregnancies were notified. Among these pregnancies, 2379 were included in the analysis. One hundred thirty-four babies and fetuses had a congenital anomaly (4.9%). The major prevalences found among the recorded anomalies were congenital heart defects, chromosomal anomalies, and urinary defects. However, the risk of congenital anomalies in babies and fetuses conceived after FET was not increased compared with babies and fetuses conceived after fresh embryo transfer, even when adjusted for confounding factors (p = 0.40).

Conclusions

There is no increased risk of congenital anomalies in babies and fetuses conceived by fresh versus frozen embryo transfer after in vitro fertilization with and without micromanipulation. Indeed, distribution of congenital anomalies found in our population is consistent with the high prevalence of congenital heart defects, chromosomal anomalies, and urinary defects that have been found by other authors in children conceived by infertile couples when compared to children conceived spontaneously.

     

彩色多普勒超声心动图检测胎儿先天性心脏病

目的　探讨彩色多普勒超声心动图检测胎儿先天性心脏病 (先心病 )的可行性。　方法　 2 96例胎儿分为两组 :14 2例有高危因素的胎儿 ,15 4例正常妊娠胎儿。应用多普勒测定胎儿心脏各切面 ,并在生后作超声心动随访。　结果　在 14 2例有高危因素的胎儿中 ,发现胎儿先心病 5例 ,其中右心发育不良综合征 1例、法洛四联症 2例、单纯性室间隔缺损 (室缺 ) 2例。漏诊 2例 ,为单纯性室缺1例及房间隔缺损 1例。 15 4例正常妊娠胎儿中未发现先心病。生后超声心动随访或引产尸检结果与产前诊断相符。　结论　彩色多普勒超声心动图在诊断胎儿先心病方面是比较准确和安全的 ,对高危孕妇需加强胎儿先心病的检测     

Ultrasonographic diagnosis and perinatal management of fetal abdominal wall defects.

Thirty-four fetuses with ultrasonographically diagnosed abdominal wall defects are described. In 20 out of the 25 (80%) cases with omphalocele, there were associated abnormalities, mainly chromosomal defects (48%), cardiac (28%), genitourinary (20%), craniofacial (20%) and diaphragmatic anomalies (12%). In gastroschisis, associated structural anomalies occurred in 2 out of 5. The 4 cases of abdominal wall defects as a part of amniotic band syndrome were associated with multiple severe defects. No chromosomal defects were found in the group with gastroschisis and amniotic band syndrome. Intrauterine fetal death occurred in 8 cases. Sixteen pregnancies were electively aborted because of an association with an anomaly incompatible with postnatal life; 3 pregnancies were electively terminated on their parents' own request. Two infants died shortly after birth. Seven infants were successfully treated. When level I ultrasound examination demonstrates a fetal abdominal wall defect, a detailed level II ultrasound examination is recommended to exclude associated malformations. In case of omphalocele, prenatal chromosome analysis is indicated. Delivery in a tertiary care center is recommended. A randomized prospective trial is needed to see whether cesarean section or vaginal delivery is the preferred mode of delivery for these infants.     

Clinical Assisted Reproduction: Are Singleton Assisted Reproductive Technology Pregnancies at Risk of Prematurity?

Purpose: Our purpose was to determine the risk of premature delivery among singleton pregnancies derived from assisted reproduction technology (ART).Methods: Ninety-five singleton ART pregnancies and 190 matched spontaneous pregnancies were assessed for preterm delivery rates, pregnancy complications, and cesarean section rates in a retrospective study at an academic medical center.Results: Among the ART singleton deliveries group (n = 95), 19 (20%) were preterm, which was statistically significantly higher than the 4% (8 of 190) found in the control group. Among the pregnancies achieved by intracytoplasmic sperm injection (ICSI) in the severe male-factor infertility subgroup (n = 22), only one preterm delivery occurred (4.5%).Conclusions: Singleton ART pregnancies are at an increased risk of preterm delivery compared to singleton pregnancies after spontaneous conception. The higher rate may be attributed to various infertility cofactors, such as uterine malformations, previous operative procedures that involved cervical dilatation, and a history of pelvic infection. This is supported by the finding that ICSI-derived pregnancies in couples with strict male-factor infertility are not at an increased risk of preterm delivery.     

Fertility after cancer: a prospective review of assisted reproductive outcome with banked semen specimens

OBJECTIVE: To examine the outcome of assisted reproduction techniques (ART) using cryopreserved semen from patients with cancer. DESIGN: Prospective. SETTING: Therapeutic semen banking program at a tertiary healthcare center. PATIENT(S): Twenty-nine men with cancer who cryopreserved their sperm before treatment at our facility from 1982 to 2001 and withdrew their samples for assisted reproduction (IUI, IVF, or intracytoplasmic sperm injection [ICSI]). INTERVENTION(S): Sperm bank records were used to identify the patients. Information on fertility potential indices was obtained from medical records and through interviews. Of the 29 patients, 9 had testicular cancer, 12 had Hodgkin's disease, and 8 had other types of cancer. MAIN OUTCOME MEASURE(S): Pregnancy and live births. RESULT(S): A total of 87 ART cycles (42 IUI, 26 IVF, and 19 ICSI) was performed. Of those cycles, 18.3% resulted in pregnancy (7% IUI, 23% IVF, and 37% ICSI), and 75% of the pregnancies resulted in a live birth (100% IUI, 83% IVF, and 57% ICSI). There was no significant difference in the outcomes when the results were stratified by type of ART and malignancy. None of the 11 infants who were born had congenital anomalies. CONCLUSION(S): Our findings emphasize the need for physicians to discuss the issue of semen cryopreservation with all men of reproductive age who have cancer before antineoplastic therapy is started.     

Risk of fetal chromosomal anomalies in patients with elevated maternal serum alpha-fetoprotein.

When elevated maternal serum alpha-fetoprotein (MSAFP) results lead to diagnostic amniocentesis, a decision of whether to karyotype fetal cells must be made. We examined our experience with MSAFP screening in 71,563 unselected pregnancies in which karyotyping was performed when amniocentesis was done because of MSAFP elevations. A total of 727 women (1.0%) underwent amniocentesis because of elevated MSAFP values and among this group, seven chromosomal anomalies (incidence one in 104) were detected. Of the 727 women, 658 (91%) had normal amniotic fluid AFP. In this group, there were six (one in 109) chromosomally abnormal fetuses: three with triploidy, two with 47,XXX, and one with 46,XX,1q-. Among the 69 pregnancies with elevated amniotic fluid AFP, one fetal chromosomal anomaly (trisomy 13) was diagnosed. The incidence of all chromosomal anomalies observed in women undergoing amniocentesis because of elevated MSAFP is comparable to that reported in women 36 years of age undergoing testing because of advanced maternal age. We believe that chromosome analysis should be performed on amniotic fluid samples obtained because of elevated MSAFP unless there are compelling financial circumstances that preclude this. Even in such cases, cell cultures should be established until the amniotic fluid AFP result is available. Chromosome analysis is essential when the amniotic fluid AFP is elevated because of the known association between open fetal defects (spina bifida, omphalocele, and scalp defects) and trisomies 13 and 18.     

Placental inflammation and oxidative stress in the mouse model of assisted reproduction

Higher rates of low birth weight and prematurity are observed in pregnancies generated with assisted reproduction technologies (ART). Both conditions have been associated with placental inflammation and oxidative stress. Since placental and fetal levels of progesterone, a major anti-inflammatory steroid, are decreased in murine ART, we investigated placental inflammation and oxidative stress in this model as potential mediators of negative birth outcomes. After generating mouse pregnancies by in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) we evaluated the antioxidant defense network and major inflammatory cytokines in maternal, placental and fetal tissues. Additionally, placentas were analyzed for total lipid levels, fibrosis, apoptosis, reactive oxygen species and integrity of intracellular nucleotides. Placentas from ART contained significantly less lipids, with greater levels of apoptosis and degraded nucleotides. Placentas from ICSI pregnancies had lower activities of superoxide dismutase (SOD), thioredoxin reductase (TrxR), xanthine oxidase (XO), catalase, glutathione-S-transferase (GST) glutathione peroxidase, and glutathione reductase (GR). Furthermore, GR, GST and SOD were also lower in fetal livers from ICSI pregnancies. Placentas from IVF pregnancies had decreased levels of SOD, TrxR and XO only. In placentas from both ICSI and IVF pregnancies IL-6 levels were significantly increased. These data suggest that ART is associated with placental inflammation (IL-6), oxidative stress and apoptosis but not fibrosis or remodeling. These effects are markedly greater with the ICSI technique. Since ICSI is ubiquitous, oxidative stress and placental inflammation associated with this method may be a critical factor in negative birth outcomes such as prematurity and low birth weight.     

Obstetric outcome and incidence of congenital anomalies in 2351 IVF/ICSI babies

Purpose

The aim of this study was to provide a comprehensive follow-up of fetal and perinatal outcome and the incidence of congenital anomalies in babies born after fresh embryo transfers compared to those conceived spontaneously in infertile couples.

Methods

Retrospective comparative analysis of all clinical pregnancies from fresh cleavage-stage embryo transfer cycles (IVF and ICSI) compared with infertile patients who conceived spontaneously in the same time period (control). Congenital anomalies were classified following the European Surveillance of Congenital Anomalies (EUROCAT) classification.

Results

A total of 2414 assisted reproductive technology (ART) pregnancies were compared to 582 spontaneous conceptions in the control infertile group representing 2306 deliveries. No significant differences were found in pregnancy outcome between the two groups (delivery rate, abortion rate, ectopic pregnancies, medical abortions for fetal anomalies, single and twins mean gestational age, and weight at delivery). A significant difference (p?<?0.001) was found in the twin (21.3 vs 2.3 %) and triplet rates (2.3 vs 0 %). A total of 2351 babies were delivered in the ART group and 449 in the control group. A total of 90 babies (3.8 %) were diagnosed with a major congenital anomaly in the ART group and 15 (3.3 %) in the control group (p?=?ns). The overall rate of major congenital anomalies (105/2800) in ART and spontaneous pregnancies in infertile couples was significantly higher when compared to the EUROCAT 2.0 versus 3.75 % (p?=?0.0002).

Discussion

Babies born after ART treatments and from spontaneous conception in infertile couples had rates of congenital anomalies higher than those recorded by the EUROCAT. However, the rates of anomalies were not different within the infertile population whether conceived by ART or spontaneously. These data suggest that the diagnosis of infertility in itself is the common denominator for the increase in the rates of anomalies seen in both ART and spontaneous conceptions.

     

Evaluation of a two-step ultrasound examination protocol for the detection of major fetal structural defects

Objective: To evaluate a two-step screening protocol of ultrasound examinations (11–14 and 20–24 weeks) for the detection of major fetal structural defects. Methods: Retrospective study in a private maternity hospital. Women with viable singleton pregnancies having both first trimester scan and anomaly scan at our department and subsequently delivered at our hospital were included. Major fetal structural defects were defined as those requiring medical or surgical treatment or those causing mental handicap. Results: A total of 3,902 pregnancies included 61 fetuses with structural defects (1.56%). Twenty-six (42.6%) were diagnosed in the first trimester and 29 (47.5%) in the second. Six anomalies were detected in the third trimester or after birth. Overall detection rate of the two-step program was 90.2%. Conclusions: Detailed examination of fetal anatomy at 11–14 weeks resulted in the early diagnosis of about 40% of major structural defects     

Prenatal karyotypes of fetuses conceived by intracytoplasmic sperm injection

OBJECTIVE: To evaluate the rate of chromosomal abnormalities in babies conceived by intracytoplasmic sperm injection (ICSI). DESIGN: Retrospective case-control analysis. SETTING: Private IVF center. PATIENT(S): One thousand one hundred thirty-six karyotype results obtained from fetuses conceived by ICSI. INTERVENTION(S): Amniocentesis and prenatal karyotyping. MAIN OUTCOME MEASURE(S): Presence of normal and abnormal chromosomal configurations. RESULT(S): Abnormal karyotypes were detected in 17 (1.5%) of 1,136 fetuses. Eight (0.7%) of these were from singleton and nine (0.8%) from twin pregnancies. There was no difference in the autosomal chromosome structure or the number or structure of sex chromosomes in karyotyped fetuses of singleton and twin pregnancies. However, abnormal numbers of autosomal chromosomes were more frequent in singletons (2.3%) than in twins (1.1%). There was also no difference in the frequency of chromosomal aberrations between ICSI groups in which ejaculated spermatozoa (1.9%) and testicular spermatozoa (1.5%) were used. There was no difference in the frequency of chromosomal aberrations between fetuses for whom ICSI was used because of male factors (1.8%) compared with babies for whom ICSI was also the choice of assisted fertilization method for other types of infertility factors (0.9%). CONCLUSION(S): Sperm source does not influence the karyotype of babies conceived by ICSI. By comparing our results with previously reported data from natural pregnancies, we show that ICSI babies carry a significantly increased risk of an abnormal karyotype. However, the increased risk is similar among the different infertility groups.     

妊娠早期胎儿颈部透明层厚度与胎儿预后的前瞻性队列研究

目的探讨妊娠早期胎儿颈部透明层(NT)厚度与胎儿预后的关系。方法收集2015年12月至2018年12月于南京大学医学院附属鼓楼医院行妊娠早期胎儿NT厚度测量的单胎孕妇,共4958例建立前瞻性研究队列,进行妊娠早期胎儿结构超声筛查、妊娠早期血清学筛查、妊娠中期超声筛查及对新生儿出生后28 d的体格检查。根据妊娠早期超声筛查的结果,分为胎儿NT增厚(≥3.0 mm)者167例与NT厚度正常者4791例;将胎儿NT增厚的孕妇,分为胎儿单纯NT增厚者86例与NT增厚合并结构异常者81例。分析不同NT厚度胎儿的预后,并重点对单纯NT增厚与NT增厚合并结构异常胎儿的妊娠结局进行分析。妊娠早期超声筛查发现胎儿结构异常或血清学筛查结果为高风险的孕妇,经绒毛穿刺取样术行染色体微阵列分析(CMA)检测以明确产前诊断。结果(1)胎儿NT厚度正常孕妇的妊娠结局:共4791例孕妇,包括胎儿NT厚度正常且无结构异常者4726例,其中妊娠中期及产后新诊断结构异常83例,4688例活产;胎儿NT厚度正常但结构异常的孕妇65例,其中61例孕妇终止妊娠,4例活产。(2)胎儿单纯NT增厚孕妇的妊娠结局:86例孕妇中,66例(76.7%,66/86)行CMA检测,3例胎儿诊断为21三体综合征;除7例孕妇选择终止妊娠外,余79例行妊娠中期超声检查、新生儿出生后28 d体格检查、新生儿电话随访至6~21个月均未发现发育异常。(3)胎儿NT增厚合并结构异常孕妇的妊娠结局:81例孕妇中,73例(90.1%,73/81)行CMA检测,其中32例的胎儿为染色体非整倍体异常。70例选择终止妊娠,2例妊娠中期自然流产,9例活产。(4)NT增厚是否合并结构异常胎儿的产前诊断结果及预后比较:单纯NT增厚的胎儿染色体非整倍体的发生率为3.5%(3/86),合并结构异常者为39.5%(32/81),两者比较,差异有统计学意义(χ2=32.7,P<0.01);胎儿单纯NT增厚孕妇的健康新生儿存活率为91.9%(79/86),合并结构异常者为9.9%(8/81),两者比较,差异有统计学意义(χ2=112.3,P<0.01)。结论妊娠早期,超声筛查胎儿NT及结构,能提高出生缺陷的产前筛查率。单纯NT增厚胎儿的染色体非整倍体的发生率较低,新生儿健康存活率较高。     

Extremely high maternal serum alpha-fetoprotein levels at second-trimester screening.

Maternal serum alpha-fetoprotein (MSAFP) screening is widely used for the detection of open neural tube defects (NTDs) and a variety of other anomalies and complications. We examined the outcomes of 44 pregnancies with MSAFP elevations of 8 or more multiples of the median (MoM) from among 40,676 screened pregnancies. At the initial evaluation by ultrasound, 82% of the patients had at least one finding that may have accounted for the elevation. Approximately 45% of the fetuses had a major fetal anomaly, 25% died, 16% had an identifiable placental abnormality, and 5% had an underestimation of gestational age; 18% of the elevations remained unexplained after ultrasound. In follow-up of the pregnancies, all of those with an unexplained elevation after initial ultrasound had at least one obstetric complication or placental abnormality. The overall positive predictive value of an MSAFP value of 8 or more MoM for NTDs was 22.7%. The proportion of infants born alive in the overall group was low, with only 16 live births among 46 fetuses. The majority of the nonviable outcomes were associated with a fetus with a major anomaly that was terminated or died before 20 weeks. Of the live-born infants, 31% had a major anomaly, 19% had intrauterine growth retardation (IUGR) and an anomaly, 12.5% had IUGR without an anomaly, and 25% were preterm. Eighty-eight percent of those pregnancies with a live-born infant had at least one obstetric complication. Among pregnancies with MSAFP of 8 or more MoM, the majority are associated with large structural fetal anomalies or fetal death before 20 weeks.(ABSTRACT TRUNCATED AT 250 WORDS)     

Chromosome analysis of spontaneous abortions after in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI)

OBJECTIVE: To verify the hypothesis that the incidence of chromosomal abnormalities significantly increases in the products of conception of males with sub-fertility, treated with assisted reproduction techniques (ART). STUDY DESIGN: All removed products of conception tissues were analyzed with standard cytogenetic techniques. A karyotype of the abortions was possible in 35 cases of IVF and 29 of ICSI. RESULTS: 15/35 (43%) IVF abortions and 14/29 (48%) ICSI abortions, respectively, have shown a chromosomal abnormality. The most frequent abnormality was monosomy X (45,X0). CONCLUSION: No significant difference in the incidence of embryonic anomalies was found between IVF and ICSI group. However, both IVF and ICSI allow pre-implantation diagnosis and embryo chromosomal evaluation should be considered, before transfer. Genetic counselling and consideration of prenatal diagnosis is suggested as integral part of planning of treatment strategies for 'at risk couples'.     

Ultrasound in the diagnosis of congenital anomalies.

With high-resolution ultrasound equipment, it is now possible to diagnose certain fetal anomalies in the third trimester and in some cases before the twentieth week of gestation. During a 27 month period 2,548 ultrasound scans were performed in high-risk patients. An anomaly was diagnosed in 10 of 122 second-trimester patients who were at risk for recurrent fetal defects. Fetal deformity was also found in 26 third-trimester patients. Of the 2.8% of patients found to have polyhydramnios 18% were associated with various types of anomaly. With ultrasound it was possible to examine internal fetal anatomy and to identify abnormalities of the fetal cranium, spine, chest, abdomen, and limbs. These anomalies are reviewed here in detail. Based on ultrasonically derived information, second-trimester patients can be offered information concerning the status of their fetuses at risk genetically and physicians can better manage third-trimester patients with diagnosed fetal deformities.     

Single umbilical artery is associated with an increased incidence of structural and chromosomal anomalies and growth restriction

The objective to characterize neonatal outcome associated with ultrasonographic identification of a single umbilical artery. Pregnancies diagnosed with single umbilical artery antenatally were identified. All prenatal/antenatal and pediatric records were reviewed for maternal demographics, associated anomalies, karyotypic analysis, pregnancy complications, and neonatal outcome. Twenty-seven pregnancies complicated by fetal single umbilical artery were identified. Of the 27 pregnancies, 5 (18.5%) underwent pregnancy termination and 1 (3.7%) experienced fetal demise. Of the 21 liveborn infants, 4 (19%) died within the first year of life. Sixty-seven percent of fetuses had an associated structural anomaly. Sixteen of the 27 pregnancies underwent amniocentesis and 7 of these were chromosomally abnormal. All of the karyotypically abnormal fetuses had a structural defect in addition to the single umbilical artery. Of the six fetuses without any associated structural or chromosomal anomalies, three (50%) demonstrated growth restriction. Single umbilical artery is relatively rare finding. When a single umbilical artery is identified, a vigilant search for associated anomalies should be undertaken. Pregnancies identified as having fetuses with associated structural anomalies should be offered amniocentesis. Pregnancies with isolated single umbilical artery should be carefully monitored for evidence of fetal growth restriction.     

Ultrasound screening for fetal major abnormalities at 11-14 weeks

BACKGROUND: This study was planned to evaluate the efficiency of the 11-14 week scan in detecting fetuses with major fetal structural abnormalities. METHODS: Some 1,290 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week after the detection of the fetal viability. The fetal anatomy was examined transabdominally, and in suspected cases transvaginally. Following the scans, the patients were examined in the second or third trimester of pregnancy. Fetal structural abnormalities classified as major and early onset were noted. Isolated choroid plexus cysts, cardiac defects not requiring treatment, mild ventriculomegaly, and mild renal pelviectasis in second trimester were not included. RESULTS: Twenty-four (1.86%) fetuses with various defects were identified, and 17 of these were diagnosed at the 11-14 week scan. The antenatal ultrasound detection rate of the fetuses with major anomalies was 95%, and 70% were detected in the first-trimester assessment. Four cardiac defects associated with genetic syndromes or requiring operation were included (0.31%) in this series. Two of the fetuses with cardiac defects (50%) had an increased nuchal translucency thickness. In this group, none of the fetuses with karyotype anomalies was born alive. CONCLUSIONS: The first-trimester scan is important in routine antenatal care for early detection of fetal defects, and determination of the fetuses at risk of cardiac anomalies and genetic syndromes.     

Multifetal gestations with assisted reproductive technique before the single-embryo transfer legislation: obstetric,neonatal outcomes and congenital anomalies

Objective: To compare perinatal, neonatal outcome and congenital anomalies of multiple gestations conceived by means of assisted reproductive techniques with spontaneously conceived multiples before the limitation of number of embryo transfer.

Methods: Cases consisted of assisted reproductive technique (ART) multifetal gestations and control group comprised of spontaneously conceived multifetal gestations delivered in the same time period. Outcomes were perinatal, neonatal outcome, long-term outcomes and congenital anomalies of multiple gestations. There were 270 multifetal pregnancies for analysis, of which 137 were achieved by ART and 133 were spontaneous in this prospective study.

Results: Incidences of preeclampsia, gestational diabetes, deep vein thrombosis, thrombocytopenia, intrahepatic cholestasis and preterm premature rupture of membranes were similar in ART and spontaneous groups. There was no difference in fetal malformation rates between ART and control group, but higher rates of central nervous system malformation were observed (4 (1.5%) in control, 0 in ART group, p?=?0.04) in spontaneous group. No difference was seen in the perinatal mortality.

Conclusions: Neonatal and maternal outcomes are comparable between ART and spontaneous multifetal gestations. Congenital fetal malformation rates between ART and spontaneous multifetal pregnancies were similar except central nervous system malformation that was more likely in spontaneously conceived ones.