Prenatal diagnosis in twin gestations

Twin gestations face an increased risk of structural abnormalities compared with singleton gestations, as well as an increased risk of aneuploidy. Accordingly, there is a need for accurate prenatal diagnosis of fetal genetic disorders and structural anomalies in twin gestations. Given the increased risk of congenital anomalies, a detailed sonographic survey of fetal anatomy is recommended in the early second trimester of twin gestations. In addition, fetal echocardiography should be considered in monochorionic twin gestations and in dichorionic twin pregnancies conceived using assisted reproductive technologies given the increased risk of congenital heart disease in these populations. Although first- and second-trimester aneuploidy screening in twin gestations is available, screening is less accurate than in singleton gestations. Invasive prenatal diagnosis in twin pregnancies is associated with a risk of pregnancy loss that is higher than the baseline risk of loss among twin gestations. Precise procedure-related loss rates in twin gestations undergoing chorionic villus sampling or amniocentesis, however, remain unclear because of methodological differences between published studies investigating diagnostic procedures in twins.     

Clinical significance of first trimester crown-rump length disparity in dichorionic twin gestations

OBJECTIVE: The purpose of this study was to determine the clinical significance of first trimester crown-rump disparity in dichorionic twin gestations. STUDY DESIGN: Ultrasound examinations of dichorionic twin pregnancies between 11 and 14 weeks of gestation were evaluated for growth discordance using crown-rump length. Medical records were reviewed for antenatal complications that included spontaneous abortion, fetal death, fetal structural or chromosomal anomalies, and preterm delivery. Fisher's exact test was used for statistical analysis; a probability value of <.05 was considered significant. RESULTS: Of 159 twin pregnancies, there were 7 fetal structural anomalies, 2 fetal chromosomal anomalies, 5 second-trimester spontaneous abortions, 3 second-trimester fetal deaths, and 1 third-trimester fetal death. Pregnancies that were complicated by fetal structural or chromosomal anomalies had significantly greater median crown-rump length discordance than pregnancies without fetal anomalies (4.0 mm vs 2.0 mm; P = .02). Crown-rump length discordance >10%, which is the 90th percentile for intertwin crown-rump length disparity in our population, was associated with a significantly higher incidence of fetal anomalies (22.2% vs 2.8%; P = .01). CONCLUSION: First trimester crown-rump length disparity in dichorionic twin gestations is associated with an increased risk of fetal structural and chromosomal anomalies.     

Risk of fetal loss in twin pregnancies undergoing second trimester amniocentesis(1)

OBJECTIVE: To assess the rate of fetal loss among bichorionic twin gestations undergoing genetic amniocentesis compared with singletons undergoing the procedure and untested twins. METHODS: In a retrospective cohort study, three groups were compared: 476 women with twins undergoing amniocentesis, 489 women with singleton gestations undergoing amniocentesis, and 477 women with twins presenting at a similar gestational age for ultrasound studies only. All subjects were scanned at 17-18 weeks' gestation and again approximately 4 weeks after the procedure or first ultrasound scan. Excluded were twin pregnancies after fetal reduction or chorionic villus sampling, fetuses with structural anomalies, and cases in which one fetus had died at the time of examination or after fetal reduction. RESULTS: Thirteen twin gestations in the tested group (2.73%) aborted spontaneously up to 4 weeks after the procedure compared with three twin controls (0.63%, P =.01) and three post-procedure singleton controls (0.6%, P =.01). An abnormal karyotype was discovered in 15 tested twin pregnancies (3%) and in six tested singletons (1.23%). All affected twin pairs were discordant for the chromosomal anomaly. CONCLUSION: The risk of early fetal loss in twins undergoing amniocentesis appears to be higher than that of exposed singletons or unexposed twins.     

双胎妊娠染色体异常的产前筛查及产前诊断

双胎妊娠发生胎儿畸形、染色体异常的风险较单胎妊娠高。近年来双胎妊娠发生率和高龄产妇数量不断增加,双胎妊娠的早期筛查以及产前诊断十分重要。早孕期,颈项透明层(nuchal translucency,NT)超声筛查是重要手段,不建议单独使用血清学筛查;中孕期超声结构筛查对检出胎儿结构异常有一定意义。无创产前基因检测技术的发展,对降低侵入性产前诊断的风险有重要意义,但由于目前临床证据尚不充分,双胎妊娠行无创基因检测仍需谨慎。     

双胎妊娠胎盘特征及其临床预后

双胎妊娠较单胎妊娠更容易发生胎儿异常及胎盘异常。双胎妊娠中的一些胎盘异常在单胎妊娠中也可发生,如前置胎盘、胎盘早剥等。然而,有些胎盘异常是双胎妊娠所特有的,且主要与单绒毛膜双胎有关,如胎盘内血管异常融合等。这些情况大多数可以用超声诊断,包括测定绒毛膜性、羊膜性以及胎盘异常的识别。分娩后胎盘病理检查可以帮助评估胎盘异常的存在,提供关于绒毛膜性的信息,了解双胎妊娠疾病的胎盘相关发病机制。     

Differences in TDx fetal lung maturity assay values between twin and singleton gestations

OBJECTIVE: The purpose of this study was to quantify differences in indexes of pulmonary maturity between singleton and twin gestations by means of the TDx fetal lung maturity assay.Study Design: We identified records of a total of 830 singleton and twin pregnancies not complicated by diabetes and delivered between 28 and 37 weeks' gestation from December 1994 through August 1995. Among these, 170 (20%) had TDx fetal lung maturity measurements performed within 72 hours of delivery. Linear regression was used to assess differences in TDx fetal lung maturity assay values between singleton gestations (n = 143 gestations) and twin gestations (n = 27 gestations) while controlling for potential confounding factors. RESULTS: Twin gestations were no more likely than singleton gestations to undergo TDx fetal lung maturity screening (odds ratio, 1.3; 95% confidence interval, 0.8-2.2). Pregnancy complications and corticosteroid treatment were similar in the two groups. After 31 weeks' gestation the twin gestations had significantly higher TDx fetal lung maturity values. Linear regression with controls for gestational age indicated that twin gestations on average had a TDx fetal lung maturity value that was 22.0 mg/g (95% confidence interval, 9.8-34.6 mg/g) higher than that of gestational age-matched singleton gestations. CONCLUSION: Beyond 31 weeks' gestation twin pregnancies appeared to have a TDx fetal lung maturity value that was 22 mg/g higher than that of singleton pregnancies. If the underlying incidences of respiratory distress syndrome are similar between twin and singleton gestations, then the potential exists for false-positive prediction of adequate lung maturity values among twin gestations.     

Brain damage to the survivor within 30 min of co-twin demise in monochorionic twins

Single fetal death in a twin pregnancy in the late second or early third trimester is associated with significant morbidity and mortality rate in the surviving co-twin, especially in monochorionic twin pregnancies. The common causes are twin-to-twin transfusion syndrome, chromosomal abnormalities, and congenital anomalies of the fetus or anomalies of the umbilical cord-placenta. Here we report a case of monochorionic twin pregnancy in which one fetus had a single umbilical artery (SUA) while the co-twin had two umbilical arteries. The twin with SUA died in utero at the 30th week of gestation and the other fetus was delivered by cesarean section immediately due to fetal distress diagnosed by cardiotocography. Disseminated intravascular coagulation and multicystic encephalomalacia have been observed in the surviving neonate. This case and review of the literature suggest that neurologic complication rates are also increased in monochorionic twin pregnancies with single fetal demise despite the immediate delivery as in our case.     

双胎妊娠胎儿染色体非整倍体产前筛查的研究进展

双胎妊娠胎儿染色体非整倍体疾病的发生率较单胎妊娠高,同时其筛查受到很多因素的影响。双胎妊娠的合子性质非常重要,直接影响风险率的计算模式,临床实践中多以妊娠早期绒毛膜性间接判断。目前双胎妊娠染色体非整倍体疾病筛查方案集中在妊娠早期胎儿颈部半透明层厚度(nuchal translucency,NT)筛查、妊娠早期联合筛查(NT+血清学筛查)、妊娠中期血清学筛查以及利用无创产前检测技术(noninvasive prenatal test,NIPT)进行胎儿染色体非整倍体疾病筛查。这些方案主要涉及染色体疾病中发病率较高的21-三体综合征和18-三体综合征。考虑到检出率、假阳性率以及经济学效应,妊娠早期联合筛查为目前双胎妊娠染色体非整倍体疾病筛查的主要方案,对近年来双胎妊娠染色体非整倍体产前筛查研究进展进行综述。     

Ultrasound in twins: Dichorionic and monochorionic

The objective of this review is to assess the evidence that supports the use of ultrasound in twin pregnancies. Although many of the indications for obstetric ultrasound are the same in both singleton and multiple gestations, there are special considerations as well as unique conditions in twins that require additional imaging studies. The reasons for ultrasound in twins include pregnancy dating, determination of chorionicity, nuchal translucency assessment, anatomical survey, placental evaluation, cervical length assessment, routine fetal growth, and serial surveillance of pregnancies complicated by anomalies, cervical shortening, fetal growth disturbances, and amniotic fluid abnormalities. Twins with monochorionic placentation require heightened scrutiny for monoamnionicity, conjoined twins, twin reversed arterial perfusion (TRAP) syndrome, twin–twin transfusion syndrome, unequal placental sharing with discordant twin growth or selective intrauterine fetal growth restriction (IUGR), twin anemia–polycythemia sequence (TAPS), and single fetal demise. Ultrasound is essential for the detection and management of conditions that can complicate dichorionic and monochorionic twin pregnancies.     

Ultrasound evaluation of the multifetal gestation

With the increasing incidence of multifetal gestations, it is essential for the clinician to appreciate the benefit of ultrasound evaluation in these pregnancies. Multifetal gestation pregnancies are at increased risk for a range of both antepartum and intrapartum complications, such as intrauterine growth restriction, premature delivery, congenital anomalies, cord accidents, malpresentations, placenta previa, and abruptio placentae. First-trimester ultrasonic evaluation, amniotic fluid assessment, monitoring of fetal growth, diagnosing the twin-to-twin transfusion syndrome, and assessment of fetal anomalies will be reviewed. An early and accurate assessment of amnionicity and chorionicity are paramount in these gestations. The impact of chorionicity, in particular, can have profound consequences in the management of multifetal gestations. The determination of chorionicity onultrasonic evaluation in a multifetal gestations. The determination of chorionicity on ultrasonic evaluation in a multifetal pregnancy should be determined in a systematic way between 10-14 weeks' gestation. The amniotic fluid volume should be routinely assessed when performing an ultrasonic evaluation in a multifetal pregnancy. Amniotic fluid changes may serve as the only useful indicator to a potential pathological condition. In addition, evaluation of fetal growth in twins is essential, because these pregnancies are at increased risk for growth restriction and increased perinatal mortality rates compared to singletons. Finally, a careful anatomical evaluation in mulitifetal gestation is important because twin pregnancies have higher rates of anomalies than their singleton counterparts.     

Management of monoamniotic twin pregnancies: a case series and systematic review of the literature

Objectives To review the experience of the University of Toronto Perinatal Complex, Ontario, Canada concerning antenatally diagnosed monoamniotic twin pregnancies; and to compare our results with cases reported in the literature with respect to antenatal surveillance and perinatal outcome.
Methods A retrospective chart review of all twin gestations from 1993 to April 2000 was performed. A systematic review of the literature, 1966 to April 2000, of perinatal outcome in monoamniotic twin pregnancies was undertaken.
Setting All monoamniotic twin gestations at the University of Toronto.
Results Case-series: 25 prenatally diagnosed monoamniotic twin pregnancies were identified. Seven pregnancies were affected by fetal anomalies. One fetus died at 29 weeks. Neonatal complications occurred below 33 weeks of gestational age and were related to immaturity. Systematic review of the literature: 49 studies met our selection criteria and reported 88 cases diagnosed antenatally. Fourteen pregnancies were affected by major congenital anomalies. Twenty fetuses died after 24 weeks of gestation. Neonatal complications varied widely in severity and depended on gestational age at birth. The risk of intrauterine fetal death was 10% at the University of Toronto and 12% in the review of the literature.
Discussion Our experience, the largest so far, suggests that regular fetal surveillance and appropriate steroid administration leads to a good perinatal outcome. The risk of fetal death (10%–12%) is lower than the previously quoted risk of 30%–70%. A careful review of obstetric interventions and further work examining outpatient surveillance of monoamniotic twin pregnancies are needed. The best treatment of monoamniotic twin pregnancies can only be determined by randomised trials.     

Nonstress test assessment of twins.

Twin pregnancies have higher perinatal morbidity and mortality rates than singleton pregnancies. Researchers have demonstrated that one major benefit of prenatal care in the twin gestation is reduced fetal death rate. This study to determine the relationship of nonstress tests (NSTs) to pregnancy outcome in twin gestations comprised 665 women who delivered at Los Angeles County-University of Southern California Women's Hospital from January 1985 to January 1989. These patients, all of whom had prenatal care (PNC), were subdivided into two groups: (1) PNC and NSTs and (2) PNC and no NSTs. The groups did not differ statistically with regard to gravidity, parity and abortions. NSTs were selectively done on twin gestations complicated by discordancy or other fetal/maternal complications. Ten pregnancies were complicated by fetal demise of one or both twins in patients who received prenatal care without NSTs. Among the NST group there was one fetal demise. Although the NST group had fewer fetal deaths, the reduction was not statistically significant (P = .062). Infant birth weight was identified as a confounder because the NST group had a statistically higher mean birth weight. Definitive proof of the ability of NSTs to reduce the fetal death rate in twin gestations complicated by discordancy or other pregnancy complications awaits a large, prospective, randomized trial.     

Perinatal outcome of twin pregnancies with one structurally affected fetus: a case-control study.

OBJECTIVE: To determine whether one structurally affected fetus of a twin pregnancy further increases the risk of preterm delivery and to compare perinatal morbidity and mortality in these pregnancies with twin gestations with structurally normal fetuses. STUDY DESIGN: The cases (n = 25) included all twin gestations diagnosed from 1991 to 1994 with a sonographically detected fetal anomaly and a structurally normal co-twin delivered after 24 completed weeks' gestation. The control group consisted of 547 twin gestations delivered during the study period with no sonographically detected structural anomalies in either twin. RESULTS: Compared with controls, pregnancies with a single anomalous fetus (cases) delivered at a significantly lower gestational age (mean +/- SD: 34.0 +/- 3.2 weeks versus 35.6 +/- 3.2 weeks; p = 0.019) and had a significantly increased preterm delivery rate (76.0% vs 55.4%; p = 0.042). There was no significant difference in the incidence of intraventricular hemorrhage or respiratory distress syndrome, yet the perinatal mortality (80.0/1000 vs 6.4/1000; p = 0.000) and the average nursery stay (45.5 +/- 43.3 days versus 17.0 +/- 24.0 days; p = 0.003) were significantly increased for cases compared with controls. In addition, a significantly greater birth weight discordancy (> or = 30%) was seen in cases compared with controls (32.0% versus 9.1%; p = 0.002). The normal co-twin did not show any significant difference in the perinatal outcome variables studied when compared with controls. CONCLUSION: Compared with structurally normal twin pairs, twin gestations with a single anomalous fetus are at a significantly increased risk for preterm delivery. In addition, the anomalous fetus, but not the structurally normal co-twin, has a significantly increased mortality rate and a longer nursery stay. Finally, despite the increased risk for preterm delivery in twin pregnancies with one anomalous fetus, it is the nature of the anomaly itself that dictates the perinatal outcome.     

Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes

OBJECTIVE: The study was designed to evaluate whether double positive maternal serum screening results for Down syndrome and open neural tube defects indicate an increased risk of adverse perinatal outcome. STUDY DESIGN: A retrospective case-control study was conducted. In a cohort of 170,394 women who underwent maternal serum triple screening in Ontario, Canada, between October 1995 and September 1998, 189 women received positive screening results for both Down syndrome and neural tube defects. Each case was matched to 5 control subjects who had negative screening results for test center, maternal age, and specimen date. The risks for adverse perinatal outcomes were compared. RESULTS: Women with double-positive screening results had significantly higher risks of having fetuses with structural abnormalities (odds ratio, 14.5) and chromosomal anomalies (odds ratio, 36.3). They also had higher risks of having preeclampsia (odds ratio, 6.7), small-for-gestational age (odds ratio, 9.7), preterm delivery (odds ratio, 5.9), miscarriage, and intrauterine fetal death (odds ratio, 11.8). CONCLUSION: Double-positive maternal serum screening results are associated with fetal structural and chromosomal abnormalities and/or adverse pregnancy outcomes. Close fetal and maternal surveillance are indicated when such pregnancies are identified.     

Accuracy of fetal fibronectin to predict preterm birth in twin gestations with symptoms of labor

OBJECTIVE: To investigate accuracy of fetal fibronectin testing to predict preterm birth in twin gestations with symptoms of preterm labor. METHODS: We reviewed charts of all patients with twin gestations who underwent fetal fibronectin testing and presented with complaints of preterm labor between January 1, 2000, and June 30, 2004. We also reviewed the charts of all singleton gestations with similar complaints that had fetal fibronectin testing between January 1, 2000, and December 31, 2001. All samples were processed using a rapid fetal fibronectin detection system. We calculated the sensitivity, specificity, positive predictive value, and negative predictive value of fetal fibronectin testing in singleton and twin gestations in predicting delivery within 14 days of testing. RESULTS: Four hundred twenty-nine singletons and 87 twins met the inclusion criteria. The birth rate before 34 weeks of gestation for singletons was 3.5% compared with the rate of twin pregnancies of 28.7%. Fetal fibronectin predicted delivery within 14 days of testing with a sensitivity, specificity, and positive and negative predictive values in singleton gestations of 82%, 90%, 17%, and 99%, respectively. In twin gestations, fetal fibronectin predicted delivery within 14 days of testing with a sensitivity, specificity, and positive and negative predictive values of 71%, 74%, 19%, and 97%, respectively. CONCLUSION: As noted in singleton pregnancies, fetal fibronectin testing in twins has a high negative predictive value. Fetal fibronectin evaluation may be a useful tool in screening twins with symptoms of preterm labor, because a negative result places these women at a low risk for delivering within 2 weeks of testing.     

Antenatal fetal assessment: multifetal gestation--an overview

As prevalence of multifetal gestation has increased in the United States, antenatal surveillance of these pregnancies has gained importance. This article focuses on the assessment of twin pregnancy, since critical data are lacking for the surveillance of higher order multiple gestations. Twin pregnancies encounter risks that differ in nature, frequency, and intensity from those seen in singleton pregnancies. Most of these risks stem from subnormal or discordant fetal growth or abnormalities of placentation. Sonographic modalities play key roles in antepartum surveillance. These include fetal biometry, serial growth studies, amniotic fluid volume assessment, Doppler velocimetry of fetal-placental circulation, and biophysical profile testing. Fetal heart rate testing, specifically nonstress testing, has also been used extensively in twin surveillance. This article examines the specific application of these modalities to twin gestation and reviews the best evidence available for their support. Assessment of unique risk conditions of twin-twin transfusion, monoamniotic twinning, and intrauterine death of one twin is addressed. Based on current data, a strategic outline for assessment of twin pregnancy is presented.     

Monoamnotic twin pregnancy. Multicenter study

OBJECTIVE: The purpose of this study was to evaluate of perinatal mortality and morbidity of monoamniotic twins. STUDY DESIGN: This was a multicenter retrospective analysis of 26 monoamniotic twin gestations identified between 1985 and 2004 in a 3 perinatal departments. Of these 26 pregnancies, 11 women were admitted electively for inpatient fetal monitoring. Overall mortality rates, the risk of intrauterine fetal death and neonatal mortality and morbidity, pregnancy complications and fetal anomalies were calculated. RESULTS: Monoamniotic twin pregnancies were diagnosed reliably prenatally by ultrasound in 22 women and at delivery in 4 cases. Of the 26 gestations, spontaneous fetal losses before 22 weeks of gestation were 4 cases. The overall loss rate and the perinatal mortality rate were 52% and 19.4%, respectively. Twenty-two women had both twins alive at 24 weeks of gestation; 11 women were admitted electively for inpatient fetal monitoring at 26-27 week of gestation. In this group there were 2 neonatal deaths. No intrauterine fetal death occurred in any hospitalized patient. In our series there were 100% incidence of prematurity, 38,5% of umbilical cord entaglement, 23% of TTTS, 3.6% of TRAP and 9.6% fetal congenital anomalies. CONCLUSION: Monoamniotic twins are at extremly risk of pregnancy complications and fetal loss. These pregnancies can be diagnosed reliably by ultrasound in most cases. Electively admitted women for inpatient fetal monitoring could be improved neonatal survival and decreased perinatal morbidity.     

Fetal karyotyping in twin pregnancies: selection of technique by measurement of fetal nuchal translucency

Objective To examine the usefulness of selecting the appropriate techque for fetal karyotyping in twin pregnancies by using maternal age and fetal nuchal translucency thickness to determine risk for chromosomal defects in each fetus.
Setting Fetal Medicine Centre, London, United Kingdom.
Subjects Sixty-seven twin pregnancies identified at the time of an ultrasound scan for determination of fetal nuchal translucency thickness, where the parents requested karyotyping.
Intervention The risk for chromosomal defects in each fetus was calculated from the maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. If the estimated risk for either fetus was 1 in 50 or greater, chorion villus sampling was the method of choice, whereas if the risk was less than 1 in 50 second trimester amniocentesis was performed.
Results The estimated risk for trisomies was more than 1 in 50 in 34 pregnancies and 23.5% of these fetuses were found to be chromosomally abnormal. In contrast, in the 33 low risk pregnancies chromosomal abnormalities were found in only 1.5% of the fetuses.
Conclusions In twin pregnancies the technique for fetal karyotyping may be selected by calculating the risk for chromosomal abnormality based on maternal age and fetal nuchal translucency thickness.     

Screening for trisomy 21 in twin pregnancies by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation

Objective To determine the prevalence of increased fetal nuchal translucency thickness in twin pregnancies and to evaluate screening for trisomy 21 by a combination of translucency thickness and maternal age.
Design Prospective screening study at 10 to 14 weeks of gestation.
Setting Fetal Medicine Centre.
Population 22,518 self-selected pregnant women at 10 to 14 weeks of gestation, including 21,477 singleton and 448 twin pregnancies with live fetuses.
Methods Fetal nuchal translucency thickness was measured by ultrasound examination at 10–14 weeks. Sensitivity and false positive rates of screening for trisomy 21 by a combination of fetal nuchal translucency thickness and maternal age were calculated.
Main outcome measures Prevalence of increased nuchal translucency thickness and detection of trisomy 21.
Results In the 448 twin pregnancies the nuchal translucency thickness was above the 95th centile of the normal range (for crown-rump length in singletons) in 65/896 fetuses (7.3%), including 7/8 (88%) with trisomy 21. Increased translucency was also present in four fetuses with other chromosomal abnormalities. In the chromosomally normal twin prebmancies the prevalence of increased nuchal translucency was higher in fetuses from monochorionic (8.4%; 16/190) than in those with dichori-onic pregnancies (5.4%; 37/688). The minimum estimated risk for trisomy 21, based on maternal age and fetal nuchal translucency thickness, was 1 in 300 in 19.5% (175/896) of the twins including all eight of those with trisomy 21.
Conclusions In twin pregnancies the sensitivity of fetal nuchal translucency thickness in screening for trisomy 21 is similar to that in singleton pregnancies, but the specificity is lower because translucency is also increased in chromosomally normal monochorionic twin pregnancies.