Antenatal findings and early postnatal outcomes in pregnancies with
trisomy 21: a 10-year retrospective review at a tertiary centre
Objective To examine the antenatal imaging features, intrapartum
findings and early postpartum course of pregnancies with trisomy 21
(T21). Design Ten-year retrospective review Setting A tertiary hospital
in the United Kingdom Population Women with a pregnancy affected by T21,
who did not have a termination. Methods Women with pregnancies diagnosed
with T21 on: antenatal karyotyping; karyotyping of post-mortem tissue
and postnatal karyotype samples, from February 2010-2020. Main Outcome
Measures Antenatal imaging findings, fetal growth restriction (FGR),
birthweight, mode of delivery, and early neonatal outcomes. Results
Seventy-six women with a fetus affected by T21 were identified. There
were 6 intrauterine deaths, and 70 livebirths. Thirty-eight (50%) had
an antenatal diagnosis and twenty-five (33%) had a suspected diagnosis
but declined further testing. The diagnosis was unanticipated in 13
(17%). Cardiac anomalies (n=27) were the most common antenatal anomaly.
Doppler abnormalities were apparent in 48/73 (68%). Eighteen (25.7%)
had ultrasound evidence of FGR. The majority delivered by Caesarean
section, and 21.4% of babies weighed below the 3rd percentile at
delivery. Fifty-eight (82%) were admitted to the neonatal unit.
Forty-three (61%) required respiratory support and fifty-five (78%)
either needed naso-gastric feeding or were nil by mouth. Mean PAPP-A
values were significantly lower in cases with abnormal Dopplers, FGR,
congenital anomalies and with a birthweight below the 10th percentile.
Conclusions Fetuses with T21 have high rates of placental insufficiency.
FGR and Doppler abnormalities are common. Postnatally, the majority will
require respiratory and feeding support. Antenatal counselling and
protocols should reflect these risks. Funding None