Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy.

INTRODUCTION: Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rate, time of prenatal diagnosis, and pregnancy outcome were evaluated in the Netherlands after implementation of a national screening program. MATERIALS AND METHODS: We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between January 1, 2007, and December 31, 2015, in the Amsterdam region. Severe CHD was defined as potentially life threatening if intervention within the first year of life was required. Two groups were defined: those with a first- and second-trimester anomaly scan (group 1) and those with a second-trimester anomaly scan only (group 2). A first-trimester scan was defined as a scan between 11 + 0 and 13 + 6 weeks of gestation. RESULTS: Overall, the prenatal detection rate for isolated severe CHDs was 65%; 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second-trimester scan (group 1) and 58% in the group with a second-trimester scan only (group 2) (p < 0.05). Median gestational age at detection was 19 + 6 (interquartile range [IQR] 15 + 4 - 20 + 5) in group 1 versus 20 + 3 (IQR: 20 + 0 - 21 + 1) in group 2 (p < 0.001). In group 1, 22% were diagnosed before 18 weeks of gestation. Termination of pregnancy rate in group 1 and group 2 were 48% and 27%, respectively (p < 0.01). Median gestational age at termination did not differ between the two groups. CONCLUSION: Prenatal detection rate of isolated severe CHDs and termination of pregnancy rate was higher in the group with both a first- and second-trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for additional genetic testing and optimal counseling of expectant parents regarding prognosis and perinatal management, so that well-informed decisions can be made.

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands.

OBJECTIVE: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. MATERIALS AND METHODS: US scans performed between 11+0 and 13+6 weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. RESULTS: Of all scans, 38.6% were dating scans and 61.4% were part of first-trimester screening. Anomalies were diagnosed prenatally in 200 (1.8%) fetuses; 81 (0.7%) were chromosomal and 119 (1.1%) were structural. Of all prenatally detected anomalies, 27% (n = 32) were detected at first-trimester scan, with a false-positive rate of 0.04%. All cases of anencephaly (n = 4), encephalocele (n = 2), exomphalos (n = 9), megacystis (n = 4), and limb reduction (n = 1) were diagnosed. First-trimester detection of gastroschisis and congenital heart defects was 67 and 19%, respectively. CONCLUSION: In a primary care setting, global fetal anatomical assessment at first-trimester scan without following a standardized protocol detects about 30% of all structural anomalies and most of the severe anomalies, with an extremely low false-positive rate. We hypothesize that additional training and use of a systematic protocol would improve early detection of structural anomalies.

[Ventriculomegaly at the gestational age of 20 weeks; research into its incidence and related abnormalities]. / Ventriculomegalie bij zwangerschapsduur van 20 weken: onderzoek naar incidentie en gerelateerde afwijkingen.

OBJECTIVE: To describe the incidence and the prognostic value of foetal ventriculomegaly identified between 18-23 weeks of gestational age in the northeastern part of the Netherlands during the 2002-2010 period. DESIGN: Retrospective cohort study. METHOD: From the database of the University Medical Centre Groningen in the Netherlands, we selected all cases of singleton pregnancies in which ventriculomegaly was diagnosed at 18-23 weeks of gestation. RESULTS: In 2002, ventriculomegaly was diagnosed prenatally in 1:7000 foetuses; the incidence increased to 1:1750 in 2010. In 33 (51%) of 65 affected foetuses, an associated severe physical abnormality was detected, in 5 (8%) a subtle sonomarker (subtle ultrasound finding) and in 8 (12%), a chromosomal defect. In 47% of the pregnancies where ventriculomegaly was associated with other defects, the parents opted for termination of pregnancy. In the group with isolated mild ventriculomegaly (10-12 mm), termination was performed in 1 of 19 cases; and in the group with the greater ventricular width of 13-14 mm, this decision was made for 5 of the 8 pregnancies. All continued pregnancies of foetuses with isolated ventriculomegaly resulted in live births. Isolated ventriculomegaly was diagnosed relatively more frequently in male foetuses. CONCLUSION: The introduction of ultrasound scans as part of standard prenatal care has resulted in an increased incidence of foetal ventriculomegaly. Important factors for predicting the outcome of the pregnancy are the degree of ventricular dilatation, the foetus' gender and the presence or absence of associated abnormalities. It is therefore important to use a standardised protocol for measuring ventricular width, record the biparietal diameter and foetal gender, perform a systematic physical examination and use karyotyping.

Sequential pathways of testing after first-trimester screening for trisomy 21.

OBJECTIVE: To evaluate the performance and use of second-trimester multiple-marker maternal serum screening for trisomy 21 by women who had previously undergone first-trimester combined screening (nuchal translucency, pregnancy-associated plasma protein A, and free beta-hCG), with disclosure of risk estimates. METHODS: In a multicenter, first-trimester screening study sponsored by the National Institute of Child Health and Human Development, multiple-marker maternal serum screening with alpha-fetoprotein, unconjugated estriol, and total hCG was performed in 4,145 (7 with trisomy 21) of 7,392 (9 with trisomy 21) women who were first-trimester screen-negative and 180 (7 with trisomy 21) of 813 (52 with trisomy 21) who were first-trimester screen-positive. Second-trimester risks were calculated using multiples of the median and a standardized risk algorithm with a cutoff risk of 1:270. RESULTS: Among the first-trimester screen-negative cohort, 6 of 7 (86%) trisomy 21 cases were detected by second-trimester multiple-marker maternal serum screening with a false-positive rate of 8.9%. Among the first-trimester screen-positive cohort, all 7 trisomy 21 cases were also detected in the second trimester, albeit with a 38.7% false-positive rate. CONCLUSION: Our data demonstrate that a sequential screening program that provides patients with first-trimester results and offers the option for early invasive testing or additional serum screening in the second trimester can detect 98% of trisomy 21-affected pregnancies. However, such an approach will result in 17% of patients being considered at risk and, hence, potentially having an invasive test. LEVEL OF EVIDENCE: II-2