Early prenatal sonographic diagnosis of congenital hypophosphatasia.

A pregnant woman of 14 weeks' gestation was sonographically examined due to large-for-dates uterine size. The ultrasound examination showed poor ossification of all bony structures. All limbs were shortened with no evidence of fractures. The echodensity approximated that of the surrounding organs. No acoustic shadowing was observed. Based on these sonographic findings, skeletal dysplasia and short-limb dwarfism were diagnosed, the most likely condition being congenital hypophosphatasia. Early cordocentesis was successfully performed at 15 weeks' gestation to determine fetal alkaline phosphatase concentration. This was undetectable. The prenatal diagnosis of congenital hypophosphatasia was made. After counselling, the woman decided to opt for termination of pregnancy which was performed vaginally. Post-abortion findings confirmed the prenatal diagnosis. To our knowledge, this is the earliest sonographic diagnosis of this condition reported.     

Prenatal diagnosis of hypoplastic left heart syndrome and trisomy 18 in a fetus with normal nuchal translucency and abnormal ductus venosus blood flow at 13 weeks of gestation.

We describe a case of early prenatal diagnosis of a major congenital heart anomaly and trisomy 18 in a low-risk pregnant woman. Nuchal translucency (NT) measurement at 13 weeks' gestation was 1.2 mm and Doppler evaluation of the ductus venosus detected a persistent reversed flow during atrial contraction. This finding prompted us to perform fetal echocardiography which showed hypoplastic left heart syndrome. Karyotyping following chorionic villus sampling diagnosed trisomy 18. Review of the recent literature suggests that the finding of an abnormal ductus venosus Doppler pattern in the late first trimester of pregnancy may be an early sign of either congenital cardiac or chromosomal abnormality, even in the presence of normal NT screening.     

Fetal toxic effects of angiotensin II receptor antagonists: case report and follow-up after birth

OBJECTIVE: To report a child born with renal impairment following severe anhydramnios due to maternal exposure to an angiotensin II receptor type 1 (AT1) antagonist, valsartan, and hydrochlorothiazide during the first 28 weeks of pregnancy. CASE SUMMARY: A hypertensive woman treated with valsartan 80 mg/day, hydrochlorothiazide 12.5 mg/day, prazosin 10 mg/day, lysine acetylsalicylate 100 mg/day, and levothyroxine 250 microg/day became pregnant. At 28 weeks' gestational age, severe anhydramnios associated with high beta2-microglobulin levels in the fetal blood cord was observed. Upon discontinuation of valsartan, fetal renal prognosis improved. In this case, using the Naranjo probability scale, the renal insufficiency of the child was probably related to valsartan. At the age of 2.5 years, the child presented with only mild chronic renal insufficiency. Growth parameters were within the normal range, and there was no evidence of developmental delay. DISCUSSION: Exposure to AT1 antagonists during the second part of pregnancy can lead to abnormalities similar to those observed after exposure to angiotensin-converting enzyme inhibitors, that is, reduced fetal kidney perfusion that may result in oligoamnios and neonatal renal insufficiency. Fourteen previous reports of maternal exposure to AT1 antagonists during this period have been published. In 6 cases, fetal or neonatal death occurred; in 2 cases, pregnancy was terminated because of complete anhydramnios or fetal abnormalities; in 1 case, renal insufficiency persisted at 8 months of age; in 2 cases, kidney function was fairly normal at birth; and in 4 cases, including the one described here, neonatal renal failure improved in the first year of life. CONCLUSIONS: AT1 antagonists should be avoided throughout pregnancy. If these agents are prescribed accidentally to a pregnant woman, monitoring of amniotic fluid volume and beta2-microglobulin fetal blood levels after discontinuation of the AT1 antagonist can provide critical data for advising parents on pregnancy and fetal outcome.     

Pregnancy after Fontan repair of tricuspid atresia.

We have described a patient who had a cyanotic congenital heart disease (type Ib tricuspid atresia), with initial palliation accomplished in childhood via a Glenn procedure. In 1985, she had a Fontan repair with the Bjork modification; 3 years later she achieved her first pregnancy at age 27. Maternal Doppler echocardiography in early pregnancy showed good flow through the constructed conduit, with normal left ventricular size and function. Fetal echocardiography at 22 weeks' gestation via two-dimensional, M-mode, pulsed Doppler, and color flow mapping revealed no evidence of fetal cardiac disease. At 25 weeks' gestation recalcitrant preterm labor developed, and the infant was delivered spontaneously. Labor, delivery, and puerperium were uncomplicated, and the newborn (though too premature to survive) was of appropriate weight for gestational age, without evidence of congenital heart disease or other anomalies. We believe this is the first report of pregnancy and spontaneous delivery in a patient who has had Fontan repair of a congenital heart defect.     

Fatal fetal outcome with the combined use of valsartan and atenolol

OBJECTIVE: To report a case of anhydramnios, pulmonary hypoplasia, very small placenta, and fetal death in a pregnancy complicated by chronic hypertension and diabetes mellitus that had been treated through the first 24 weeks of gestation with valsartan and atenolol. CASE SUMMARY: A 40-year-old Hispanic woman with well-controlled chronic hypertension and diet-controlled type 2 diabetes mellitus was treated with valsartan and atenolol until pregnancy was diagnosed at 24 weeks' gestation. An ultrasound examination revealed normal fetal growth and anatomy but anhydramnios (amniotic fluid index 0). Valsartan was discontinued, and amniotic fluid volume normalized within two weeks. Intrauterine fetal death was documented at 33 weeks' gestation. Labor was induced, with the delivery of a stillbom female fetus with small, hypoplastic lungs (weight 41% of expected) and an extremely small, 148-g placenta (weight 48% of the 10th percentile for gestational age). DISCUSSION: The use of valsartan, a selective angiotensin II receptor antagonist (ARA), in human pregnancy has not been reported, but this class of agents would be expected to cause fetal toxicity similar to that observed with angiotensin-converting enzyme inhibitors. This toxicity includes reduced perfusion of the fetal kidneys, resulting in anuria, oligohydramnios, and subsequent pulmonary hypoplasia. The small hypoplastic lungs and very small placenta were probably a consequence of valsartan and atenolol combination therapy. CONCLUSIONS: Resolution of anhydramnios after discontinuing valsartan is evidence for ARA-induced fetal toxicity. The pulmonary hypoplasia observed in the stillbom infant was a direct result of the severe oligohydramnios. The cause of fetal death nine weeks later is uncertain, but because the woman's chronic hypertension and diabetes were well controlled, we believe the primary cause was chronic placental insufficiency resulting from the previous combination of valsartan and atenolol.     

Diagnosis of congenital cardiac defects between 11 and 14 weeks' gestation in high-risk patients.

OBJECTIVE: To examine the feasibility of diagnosing congenital cardiac defects between 11 and 14 weeks' gestation in a high-risk population. METHODS: Fetal echocardiography was first offered at 11 to 14 weeks' gestation to all patients at risk for congenital heart defects. Echocardiography performed at 11 to 14 weeks with normal results was repeated at 14 to 16 and 20 to 24 weeks. Final diagnoses of cardiac anomalies that had been observed at 11 to 14 weeks were established at 14 to 16 weeks or later Fetal echocardiography performed at 14 to 16 weeks with normal results was repeated at 20 to 24 weeks. Ascertainment of cardiac anomalies was obtained by postnatal echocardiography or pathologic examination of the fetal heart after termination of pregnancy. Most of the examinations were performed transvaginally until 16 weeks. The transabdominal approach was used at this stage only when patients refused the transvaginal examination or because of technical difficulties. Three hundred ninety-two fetal echocardiographic examinations were performed between 11 and 14 weeks' gestation; 438 examinations were performed between 14 and 16 weeks; and 777 examinations were performed between 20 and 24 weeks. The major indications for fetal echocardiography at 11 to 14 weeks were maternal diabetes and previous pregnancy with congenital heart defects. RESULTS: Six of 7 major fetal cardiac anomalies were detected. The only major cardiac anomaly that was not detected between 11 and 14 weeks was correctly diagnosed at 22 weeks. Only 1 of 5 minor fetal cardiac anomalies was detected between 11 and 14 weeks. Another 2 minor fetal cardiac anomalies were detected at 23 weeks. Four incorrect diagnoses of minor cardiac anomalies were excluded on repeated fetal echocardiography between 20 and 24 weeks. CONCLUSIONS: The initial attempt to diagnose congenital heart defects should be offered at 11 to 14 weeks' gestation.     

Fetal death due to extreme maternal Rh immune augmentation

A 19-year-old woman who denied previous transfusion or pregnancy delivered a stillborn RhO(D)-positive male fetus at 38 weeks' gestation. IgG antibodies with the specificities anti-Rh0(D), anti- rh"(E), anti-Jka, and anti-Yta were eluted from the fetal red blood cells. In the maternal serum, the antiglobulin titer of anti-Rh0(D) was 1:20,000 and the saline (IgM) titer was 1:1,024. Amniocentesis findings at 36 weeks had suggested only mild, if any, fetal hemolysis, but the stillborn infant showed signs of severe hemolytic disease with cardiac failure. This case appears to represent an unusual augmented immune response to fetal red blood cell antigens.     

A case of successful fetal therapy for congenital chylothorax by intrapleural injection of OK-432.

A 38-year-old multiparous woman was referred at 19 weeks' gestation because of hydrops fetalis. Ultrasonic examination revealed severe pleural effusion, ascites and skin edema. Detailed examination of the amniotic fluid, fetal blood and intrathoracic fluid led to a diagnosis of congenital fetal chylothorax. Repeated thoracocenteses were not effective in improving the hydrops fetalis. We introduced fetal treatment for the pleural effusion by an intrapleural injection of OK-432 at 23, 24 and 25 weeks' gestation. The pleural effusion was reduced by adhesion of the intrathoracic space and resulted in the delivery of a neonate who was healthy except for right renal dysfunction. Pulmonary hypoplasia was successfully prevented by OK-432.     

Prenatal sonographic diagnosis of diastrophic dwarfism

A healthy 27-year-old pregnant woman underwent sonographic examination because her uterine size was large for 20 weeks' menstrual age. Sonograms showed short fetal limbs with hitchhiker thumbs and toes, thoracic scoliosis, clubbed feet, and polyhydramnios. The ossification of all bony structures appeared normal, and there was no evidence of fractures. On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism. We counseled the parents, and the pregnancy was continued. At 37 weeks menstrual age, the patient vaginally delivered a male infant that weighed 2,560 g. The infant survived with respiratory support during his first few days of life. Postnatal physical and radiologic examinations confirmed the prenatal diagnosis of diastrophic dwarfism. Sonography is the modality of choice for prenatal detection of diastrophic dwarfism.     

Anti-G in a pregnant patient

BACKGROUND: Anti-G is a red cell (RBC) antibody of the Rh system. It has been described in pregnant women only in association with anti-D or anti-C; therefore, the ability of this antibody alone to cause hemolytic disease of the newborn is uncertain. One case in which this antibody caused no clinical sequelae is reported. CASE REPORT: The patient was a 35-year-old primigravida with type O, D-, C-, E-, c+ RBCs who was given 4 units of type O, D- allogeneic RBCs and 2 units of autologous RBCs 2 years antepartum. She was found to have anti-D and anti-C by an outside laboratory as part of a routine prenatal work-up. Further evaluation by our laboratory revealed the presence of anti-G and possible anti-C without anti-D. Titers at 22 weeks' gestation were 64 against r'r RBCs and 16 against R2R2 RBCs; these remained unchanged throughout the pregnancy. Amniocentesis performed at Weeks 28 and 32 showed no evidence of hemolytic disease of the newborn. A healthy 3.3-kg infant was delivered at 36 weeks' gestation. Prophylactic Rh immune globulin was administered antepartum and postpartum. The infant's RBCs were type O, D+, c+ C-, E-, and the direct antiglobulin test was positive. An acid eluate prepared from the baby's RBCs revealed anti-G. The total bilirubin was 5.5 mg per dL at birth, and the hematocrit was 66 percent. Total bilirubin peaked on Day 5 at 11.9 mg per dL, and no therapeutic intervention was required. CONCLUSIONS: Anti-G alone caused little if any fetal or neonatal hemolysis in this case. Although further study is needed, invasive fetal monitoring may be unnecessary if anti-G is the sole cause of fetomaternal RBC incompatibility.     

Clinical implications of increased congenital malformations after first trimester exposures to angiotensin-converting enzyme inhibitors

Angiotensin-converting enzyme (ACE) inhibitors are some of the most frequently prescribed antihypertensives in the United States. These agents are contraindicated during the second half of pregnancy because prior studies have demonstrated that use of ACE inhibitors late in pregnancy can cause oligohydramnios, fetal growth restriction, skull defects, infant anuria and renal failure, and death. Interestingly, little was known about the effects of ACE inhibitors when taken early during pregnancy. The purpose of the ACE Inhibitors in Early Pregnancy study was to clarify the safety of the use of ACE inhibitors during pregnancy by conducting an epidemiologic study using a large Medicaid database in which medications prescribed for pregnant women as a part of routine care and infant outcomes were studied. In the study, among 209 infants with first trimester exposure to ACE inhibitors, 7.1% had any major congenital malformation. Compared with 29,096 infants with no exposure to any antihypertensive medication, among whom 2.6% had any major congenital malformation, the adjusted risk of major congenital malformations was increased more than 2-fold. The risks of any congenital malformations and risks of specific organ system malformations, including cardiac malformations, were not increased in 202 infants with first trimester exposure to other antihypertensives when compared with infants with no antihypertensive exposure. Although this was an exploratory study whose findings should be confirmed, there are some important clinical insights that can be drawn from the study's conclusions. Further information on the pregnancy risks of ACE inhibitors and almost every other medication potentially used by pregnant women is needed. Thus, well-controlled studies to identify these risks should be undertaken. Until such information is available, alternative medications to ACE inhibitors should be considered in women of child-bearing age who are pregnant or who are likely to become pregnant while taking the medication.     

Nomogram of the fetal alveolar ridge: a possible screening tool for the detection of primary cleft palate.

OBJECTIVE: The objective of this study was to obtain a nomogram of the fetal alveolar ridge development, as a basis for the diagnosis of primary cleft palate. DESIGN: A cross-sectional study of 323 normal pregnant women of 14-32 weeks' gestation. Several biometric measurements were obtained throughout pregnancy, including the width of the fetal alveolar ridge. RESULTS: A nomogram of the width of the fetal alveolar ridge during 14-32 weeks' gestation is presented. A linear growth function was observed between alveolar ridge width and gestational age, biparietal diameter, head circumference, femoral length and humeral length. The alveolar ridge width in all eight cases of cleft palate was above two standard deviations and the 90th centile of our nomogram. CONCLUSION: We provide a nomogram of the growth of the fetal alveolar ridge between 14 and 32 weeks' gestation. This will aid the detection of primary cleft palate during routine prenatal sonography.     

Fetal subcutaneous tissue thickness (SCTT) in healthy and gestational diabetic pregnancies.

OBJECTIVE: To determine reference values of fetal subcutaneous tissue thickness (SCTT) throughout gestation in a healthy population and to compare them with those from a population of pregnant women with gestational diabetes under standard therapy. METHODS: Three hundred and three women recruited from a high-risk pregnancy clinic were classified as being healthy (n = 218) or as having gestational diabetes (n = 85) on the basis of a negative or positive oral glucose tolerance test, respectively. They were enrolled into the cross-sectional study at 20 weeks' gestation. Ultrasound examinations were performed approximately every 3 weeks until delivery at term. The mid-arm fat mass and lean mass (MAFM, MALM), the mid-thigh fat mass and lean mass (MTFM, MTLM), the abdominal fat mass (AFM) and the subscapular fat mass (SSFM) were evaluated. Time-specific reference ranges were constructed from the 218 healthy women and a conventional Student's t-test was performed to compare SCTT values between the two study groups throughout gestation. RESULTS: Normal ranges, including 5th, 50th and 95th centiles of the distribution, were generated for each SCTT parameter obtained in each of the two groups of women. Significant differences were found between the two study groups at 37-40 weeks' gestation for MTFM, at 20-22 and 26-28 weeks for MTLM, at 31-34 and 35-37 weeks for MAFM, at 26-28 and 38-40 weeks for SSFM, and at 39-40 weeks for AFM, the mean residual values always being greater in gestational diabetic women than they were in the group of healthy pregnant women. CONCLUSIONS: We provide gestational age-specific reference values for fetal SCTT. Fetal fat mass values, particularly in late gestation, are greater in women with gestational diabetes compared with healthy women. The reference values may have a role in assessing the influence of maternal metabolic control on fetal state.     

Estimation of fetal weight: reference range at 20-36 weeks' gestation and comparison with actual birth-weight reference range.

OBJECTIVES: To formulate reference charts and equations for estimated fetal weight (EFW) from a large sample of fetuses and to compare these charts and equations with those obtained for birth weight during the same study period and in the same single health authority. METHODS: Biometric data were obtained at 20-36 weeks' gestation from routine screening examinations spanning 4 years. Exclusion criteria were a known abnormal karyotype or congenital malformation and multiple pregnancy. No data were excluded on the basis of abnormal biometry. EFW was calculated based on Hadlock's formula. We used a polynomial regression approach (mean and SD model) to compute a new reference chart for EFW. This chart was compared with that of birth weight at 25-36 weeks' gestation during the same study period and in the same health authority. RESULTS: 18,959 fetuses were included in the study. New charts and equations for Z-score calculations at 20-36 weeks' gestation are reported. Comparison with the birth-weight chart showed that the EFW was noticeably larger at 25-36 weeks' gestation. At 28-32 weeks' gestation, the 50th centile for birth weight compared approximately with the 10th centile for EFW. CONCLUSION: We present new reference charts and equations for EFW. EFW is computed throughout gestation based on measurements in healthy fetuses. However, before full term, birth-weight charts reflect a significant proportion of growth-restricted fetuses that deliver prematurely. We provide additional evidence that comparing EFW with birth-weight charts is misleading.     

11~14周正常胎儿心脏超声检查

目的对妊娠11^＋0～14^＋6周正常胎儿心脏结构进行观察，获得该孕周内正常胎儿心脏的生理参数。方法对100位孕妇在妊娠11^＋0～14^＋6周进行常规经腹超声检查，同时观察胎儿心脏各切面结构并进行测量。结果胎儿心脏各切面显示率不同，四腔心显示率最高，其次是动脉交叉，而动脉导管的显示率最低。妊娠13周以后胎儿心脏结构超声可清晰显示。胎儿心脏周长、面积及各心室内径的增加与孕周有相关性，而心脏周长与胸廓周长比值，心脏面积与胸廓面积比值，左右心房比值以及房室率均相对衡定，与孕周之间无明显相关性。结论由于在妊娠13周以后胎儿心脏结构能够清晰显示，因此，可以将胎儿超声心动图检查时间提前至妊娠中期的早期。主要筛查与四腔心切面相关的严重的胎儿先天性心脏畸形，有利于胎儿严重先天性心脏畸形的早期诊断。     

Customizing fetal biometric charts.

OBJECTIVE: To study the effects of maternal and pregnancy characteristics on fetal biometric size using longitudinal ultrasound measurements and to construct customized models for fetal biometric size charts. METHODS: A cohort of 533 healthy pregnant women with normal singleton pregnancies were recruited for regular ultrasound examination for fetal biometry between 24 and 40 weeks' gestation. Multilevel modeling was used to construct models of fetal head size, femur length and abdominal circumference. Variables of maternal and pregnancy characteristics including booking weight and height, age, parity and fetal sex were included in the construction of the customized fetal biometric size charts. RESULTS: Increased fetal head size and abdominal circumference were significantly associated with extremes of maternal age. Maternal height had a statistically significant influence on biparietal diameter. Maternal booking weight had an influence on fetal abdominal circumference and femur length. Fetal sex was found to have a statistically significant influence on the final regression models of biparietal diameter, head circumference and femur length. Parity had an influence on fetal head circumference and abdominal circumference. CONCLUSIONS: Maternal and pregnancy characteristics have a significant influence on in-utero fetal biometry. We produced models to construct customized fetal biometric size charts. Further validation studies are necessary to evaluate the clinical usefulness of such customized fetal biometric size charts.     

Detection rate of early fetal echocardiography and in utero development of congenital heart defects.

OBJECTIVE: The purpose of this study was to evaluate the detection rate of early fetal echocardiography and the in utero development of congenital heart defects (CHD). METHODS: Cases were selected from all singleton pregnancies between 1997 and 2003 in which detailed fetal 2-dimensional and color-coded Doppler echocardiography was performed in our prenatal unit between 11 weeks' and 13 weeks 6 days' gestation; 2165 cases with complete outcome parameters were analyzed. RESULTS: During this study period, CHD were diagnosed in 46 fetuses. Between 11 and 13 weeks' gestation, 29 CHD were diagnosed (11 weeks, 9 cases; 12 weeks, 8 cases; and 13 weeks, 12 cases); 9 CHD were found in the second trimester and 2 in the third trimester. The in utero detection rate of fetal echocardiography was 86.96% (n = 40). Six additional CHD (13.04%) were detected postnatally. The spectrum of detected CHD changed with advancing gestational age and was different from the postnatal detected heart defects. CONCLUSIONS: Early fetal echocardiography is feasible and allows the detection of most CHD. Congenital heart defects vary in appearance at different stages of pregnancy and may evolve in utero with advancing gestational age. Therefore, early fetal echocardiography should always be followed by echocardiography at mid gestation.     

Relationship between seropositivity of husbands and primary cytomegalovirus infection during pregnancy

The role of the sexual transmission of human cytomegalovirus (CMV) as a cause of congenital infection was investigated. Serum samples were collected from 756 pregnant women at 10 to 12 weeks of gestation and at 32 to 36 weeks of gestation. Serum samples were also obtained from the husbands of women who seroconverted and women who were seronegative during pregnancy. Commercially available enzyme immunoassay kits were used to detect serum IgG, IgM, and IgA antibodies against CMV. CMV from neonatal urinary specimens was isolated according to a standard tissue culture technique, using MRC-5 cells. At 10 to 12 weeks of gestation, 634 of the 756 pregnant women (83.9%) had IgG antibody to CMV. At 32 to 36 weeks of gestation, 642 of the 756 women (84.9%) had IgG antibody to CMV. A meaningful rise of serum IgG-antibody titer (seroconversion) occurred in 8 women (1.1%). CMV was isolated from the urine of an infant born to a seroconverted woman within a week after birth. The prevalence of IgG antibody to CMV was significantly higher in the husbands of women who seroconverted during pregnancy than in the husbands of the women who were seronegative during pregnancy (P < 0.01). Understanding the epidemiology of CMV is a key element in the development of strategies for the prevention of infection. The transmission of CMV by sexual contact may be important in the pathogenesis of congenital infection. Entirely new approaches to the prevention and treatment of congenital CMV infection are necessary, including antiviral interventions and the development of a vaccine strategy. Received: December 14, 1999 / Accepted: April 10, 2000     

Neonatal Outcomes Associated With in Utero Exposure to Oxycodone,Overall and by Trimester of Exposure: A Retrospective Cohort Study

Oxycodone is commonly used by pregnant women for the treatment of pain. However, the potential risk associated with its use in pregnancy have not been robustly evaluated. The objective of this study was to examine neonatal outcomes associated with prenatal oxycodone exposure. State dispensing records were matched with midwives records to identify women who had been dispensed oxycodone during pregnancy (n=302). A matched comparison group of women who had been prescribed oxycodone prior to pregnancy was also identified (n=604). Hospital, mortality and congenital abnormality data were obtained for each mother-child dyad. Neonatal outcomes were examined for association with any exposure during pregnancy and trimester specific exposure, using generalized linear models. First trimester exposure was not associated with a significant increased risk of congenital anomalies (OR: 1.74 95%CI: 0.78, 3.87). Second trimester exposure to oxycodone was associated with reduction in average length of gestation (aCoef:-0.83, 95%CI: -1.26, -0.41) and birth weight (aCoef:-188, 95%CI: -299, -76). Second trimester exposure was also associated with an increased risk of very preterm birth (<32 weeks) (OR: 5.03, 95%CI: 1.95, 12.98) and admission to the special care nursery (aOR:1.99, 95%CI: 1.30, 3.03). Third trimester exposure to oxycodone was associated with a reduction in average length of gestation (aCoef:-0.33, 95%CI: -0.63, -0.02) compared with the comparison group. The use of oxycodone in pregnancy was not associated with an increased risk of congenital anomalies. However, oxycodone exposure was associated with a short period of gestation, preterm birth, and NAS, which likely contributed to a longer period of hospitalization following birth.PerspectiveThis article assesses the neonatal risks associated with prenatal exposure to oxycodone, providing clinicians and patients with important information on the safety of oxycodone in the treatment of pain in pregnancy.     

Echocardiography in early pregnancy: review of literature.

OBJECTIVE: First-trimester transvaginal sonography is a widely used technique to examine the fetus early in pregnancy. The aim of this review was to explore the possibilities of examining the fetal heart at this early stage of pregnancy. METHODS: With the use of a computerized database (PubMed, US National Library of Medicine, Bethesda, MD), articles on first-trimester echocardiography were retrieved. Furthermore, the cited references of the studied articles were used to find additional articles. RESULTS: In the analyzed articles, an increase in visualization rates of the 4-chamber view and the outflow tracts was shown in the last decade, with visualization rates of greater than 90% at 13 weeks' gestation. The different cardiac defects that are shown in first-trimester fetuses are mainly defects involving the 4-chamber view, indicating that defects solely affecting the outflow tracts are difficult to diagnose in the first trimester of pregnancy. The sonographic assessment of the fetal heart between 14 and 18 weeks' gestation has been described. The literature, however, has not shown clear advantages of performing fetal echocardiography during this period compared with transvaginal sonography at 13 weeks' gestation. CONCLUSIONS: First-trimester echocardiography is a promising technique, which can be of considerable value for patients at risk of having offspring with cardiac defects. This technique is, however, currently limited to a few specialized centers.