Absent nasal bone is associated with 58 genetic syndromes, Trisomy 18 and trisomy 21. It increases the sensitivity of second trimester scan for aneuploidy from 83 to 90%. Since 2003, absent or unossified nasal bone is therefore an integral part of the second trimester scan. The present study aimed at confirming the sensitivity of isolated absent NB in the second trimester USG, by reviewing the karyotypes and/or postnatal outcomes of such pregnancies up till at least 6 months of postnatal life. Facial profile was seen in 2D and 3D reconstructed view in all the cases to avoid missing the unilateral absence of nasal bone. Complete detailed scan and FISH on amniotic fluid cells was advised for all the cases with absent nasal bone. The present study concluded that isolated absence of NB in the second trimester may not be an effective marker for diagnosis of Down's syndrome. Amniocentesis should be advised only if absent nasal bone is associated with any other structural abnormality or additional soft marker.
Sirenomelia is a rare congenital anomaly which is an extreme example of caudal regression syndrome characterized by lower limb fusion, sacral and pelvic bony anomalies with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems (Kanagagiri et al. JMSCR 5(7), 2017). It is a sporadic occurence with no increased risk in subsequent pregnancies. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation (Mirzapur et al. Glob J Reprod Med 3(5):555624, 2018). Prenatal sonographic findings of sirenomelia (or mermaid fetus) were retrospectively reviewed in three proven cases.
Trisomy 21 is the most common aneuploidy in liveborn infants. Most of the soft markers for trisomy 21 are non-specific and transient. We present 2 cases which had abnormalities which are very rarely associated with Down's syndrome. In the first case, the patient had bilateral congenital cataract along with an absent nasal bone. In the second case, the patient had severe asymmetric fetal growth restriction at 20 weeks with other multi-system abnormalities. With detailed ultrasound scanning and thorough investigation, we could diagnose trisomy 21 even with such unusual presentations.
We present a case of massive abdominal lymphangioma in a fetus diagnosed at 28 weeks of gestation. The lesion was located in the abdomen involving lower part of thorax and entire abdominal wall, extending down to the right gluteal region. Detailed structural anomaly scan was performed, growth of the fetus assessed and patient was managed expectantly till delivery.
Electronic poster abstractsshow that if urine retention in the bladder, postnatal pulmonary hypoplasia may not develop and the prognosis immediately after birth could be good.
EP17.12 Prenatal diagnosis of an 18p deletion presenting with omphalocele
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