Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy.

Background: Increased nuchal translucency (NT) is associated with aneuploidy. When the karyotype is normal, fetuses are still at risk for structural anomalies and genetic syndromes. Our study researched the diagnostic yield of prenatal microarray in a cohort of fetuses with isolated increased NT (defined as NT ≥ 3.5 mm) and questioned whether prenatal microarray is a useful tool in determining the adverse outcomes of the pregnancy. Materials and Methods: A prospective study was performed, in which 166 women, pregnant with a fetus with isolated increased NT (ranging from 3.5 to 14.3 mm with a mean of 5.4 mm) were offered karyotyping and subsequent prenatal microarray when karyotype was normal. Additionally, all ongoing pregnancies of fetuses with normal karyotype were followed up with regard to postnatal outcome. The follow-up time after birth was maximally 4 years. Results: Totally, 149 of 166 women opted for prenatal testing. Seventy-seven fetuses showed normal karyotype (52%). Totally, 73 of 77 fetuses with normal karyotype did not show additional anomalies on an early first trimester ultrasound. Totally, 40 of 73 fetuses received prenatal microarray of whom 3 fetuses had an abnormal microarray result: two pathogenic findings (2/40) and one incidental carrier finding. In 73 fetuses with an isolated increased NT, 21 pregnancies showed abnormal postnatal outcome (21/73, 28.8%), 29 had a normal outcome (29/73, 40%), and 23 were lost to follow-up (23/73, 31.5%). Seven out of 73 live-born children showed an adverse outcome (9.6%). Conclusions: Prenatal microarray in fetuses with isolated increased NT had a 5% (2/40) increased diagnostic yield compared to conventional karyotyping. Even with a normal microarray, fetuses with an isolated increased NT had a 28.8% risk of either pregnancy loss or an affected child.

Prenatal ultrasound and magnetic resonance evaluation and fetal outcome in high-risk fetal tumors: A retrospective single-center cohort study over 20 years.

INTRODUCTION: Fetal tumors are rare and usually followed by poor outcome. We describe our single-center experience with fetal tumors evaluated by ultrasound and magnetic resonance imaging (MRI). Our aims were to evaluate mortality and morbidity including long-term outcome and to determine which ultrasound and MRI characteristics were helpful for pre- and perinatal management. MATERIAL AND METHODS: We conducted a retrospective analysis on prenatally diagnosed tumors between 1998 and 2018. Poor outcome included fetal or neonatal death and survival with serious illness. MRI addressed tumor morphology (sacrococcygeal teratomas), compromise of surrounding structures (head and neck tumors) and early depiction of brain alterations specific to tuberous sclerosis (rhabdomyomas). RESULTS: Of 68 pregnancies, 15 (22%) were terminated and eight children (8/53, 15%) died pre- or postnatally. Of the 45 survivors (45/68, 66%), 24 (24/45, 53%) were healthy, eight (8/45, 18%) had a minor illness and 13 (13/45, 29%) a serious illness. Diffusion- and T1-weighted MRI reliably predicted tumor morphology in teratomas. To detect head and neck tumors critical to airway obstruction, MRI was superior to ultrasound in delivery planning. Rhabdomyomas were frequently associated with tuberous sclerosis, regardless of their number or size in ultrasound; MRI could depict specific brain alterations from the early third trimester onwards. For several rare tumors, MRI provided critical differential diagnoses that could not be clearly displayed in ultrasound. CONCLUSIONS: The rate of survivors with serious long-term illness among fetuses with prenatal diagnosis of a tumor was high. MRI is specifically helpful for risk stratification in fetal teratomas and delivery planning in head and neck tumors.

Health Pregnancy, Healthy Baby: testing the added benefits of pregnancy ultrasound scan for child development in a randomised control trial.

BACKGROUND: The 2016 World Health Organization Antenatal Guidelines and the 2015 South African Maternal and Child Health Guidelines recommend one early antenatal ultrasound scan to establish gestational age and to detect multiple pregnancies and fetal abnormalities. Prior research indicates that ultrasound scan can also increase parental-fetal attachment. We aim to establish whether, compared to routine care, messages to promote parental attachment and healthy child development, conducted during one or two pregnancy ultrasound scans, improve early child development and growth, exclusive breastfeeding, parental-child interactions and prenatal and postnatal clinic attendance. METHODS: The effect of messages to sensitise mothers and fathers to fetal development will be tested in a three-armed randomised trial with 100 mothers and their partners from Soweto, Johannesburg in each arm. The primary outcome is child development at 6 months postnatally. Secondary outcomes include infant feeding, parental attachment and interaction, parental mental health and infant growth, assessed at 6 weeks and 6 months. Parents in Arm 1 receive a fetal ultrasound scan < 25 weeks during routine antenatal care at tertiary hospitals, and a second standard ultrasound scan at the research site within 2 weeks. Arm 2 participants receive the routine antenatal ultrasound scan and an additional ultrasound scan < 25 weeks at the research site, together with messages to promote parental attachment and healthy child development. Arm 3 participants receive the routine ultrasound scan and two additional ultrasound scans at the research site, < 25 weeks and < 36 weeks, together with messages to promote parental attachment and healthy child development. DISCUSSION: Evidence from high-income countries suggests that first-time prospective mothers and fathers enjoy seeing their fetus during ultrasound scan and that it is an emotional experience. A number of studies have found that ultrasound scan increases maternal attachment during pregnancy, a predictor of positive parent-infant interactions which, in turn, promotes healthy infant development. It is generally agreed that studies are needed which follow up parental-child behaviour and healthy child development postnatally, include fathers and examine the construct in a wider diversity of settings, especially in low and middle-income countries. Testing the added benefits of pregnancy ultrasound scan for child development is a gap that the proposed trial in South Africa seeks to address. TRIAL REGISTRATION: Pan African Clinical Trials Registry, PACTR201808107241133. Registered on 15 August 2018.

Variation of ultrasound findings in the first trimester examination of recurrent cases with trisomy 21.

Increased nuchal translucency (NT) is present in about 50% of cases with trisomy 21. Very often the nuchal edema evolves in hydrops fetalis until the second trimester. Furthermore, a small amount of cases with a normal NT and trisomy 21 exhibit anatomical anomalies. We present a case of a 21-year-old woman, nulliparous, with a history of one termination of pregnancy and a smoking quitter. The prenatal control was negative for TORCH. During the first trimester scan on the 13th week, the NT was found 2.7 mm, the ductus venosus Doppler was normal, and the nasal bone was present. Hydrops fetalis was present though, and the parents were advised for chorionic villus sampling (CVS), but they opted for termination of pregnancy. The molecular control by QF-PCR showed normal karyotype for 13 and 18, a male fetus, but non-dysjunction trisomy 21 was present. Parental karyotype was advised, but they refused to perform it. One year later, the couple had another pregnancy. On the 12th week scan, the NT was found 1.0 mm, the ductus venosus Doppler was normal, and the nasal bone was present, but encephalocele was also found, and the parents consented again for termination of pregnancy. The new molecular control showed the same results. This time parental karyotype was performed. The father had a normal one, whereas the mother showed reversed p11 and q13 zones in chromosome 2. Genetical consulting and prenatal cytological control was advised in before next pregnancy.