Learning objectives
Spectrum of cases were studied in the fetus of first trimester determining the anatomical details of various systems of fetus.
Ultrasonography (US) is performed during early pregnancy for dating, determination of the number of fetuses, assessment of early complications, and increasingly for evaluation of the fetus, including measurement of the thickness of the nuchal translucency (NT).
Background
In presence of increased NT thickness and a normal karyotype is associated with an increased frequency of structural defects and genetic syndromes.
Besides nuchal abnormalities, a wide range of other congenital anomalies can be diagnosed with US at 11–14 weeks gestation, including defects of the central nervous system, heart, anterior abdominal wall, urinary tract, and skeletal system.
All women underwent the anatomic surveywas performed with a standardized protocol by using transabdominal US and, when necessary, transvaginal US.
Findings and procedure details
Radial aplasia:Fetuses with bilateral forearm defects or those with unilateral lesions and other abnormalities detected prenatally have a high incidence of aneuploidy and genetic syndromes. Radial aplasia or hypoplasia is a rare congenital abnormality with an estimated live birth incidence of 1 : 5000,(1) but occurs more frequently than abnormalities of the ulna.
The fetus also had hemivertebrae, hypoplastic left heart with ASD and single umblical artery. Large series of prenatally detected radial ray anomalies has confirmed the postnatal observation of the high association of...
Conclusion
The US findings were correlated with the results of autopsy, chromosome analysis. Fetal echocardiography, which helped in further management of the fetus and also giving a picture of perinatal outcome with neonatologist counselling.
Personal information and conflict of interest
V. D. Bahadurdesai; Bangalore, KARNATAKA/IN - Consultant at Prima Diagnostics D. Umashankar; Bangalore, KARNATAKA/IN - Consultant at Prima Diagnostics
References
References:
1)Koskimies E, Lindfors N, Gissler M, et al. Congenital upper limb deficiencies and associated malformations in Finland: a populationbased study. J Hand Surg Am 2011;36:1058–65
2)Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M: Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet 1998;79:215–255.
3)Kähler C, Humbsch K, Schneider U, Seewald HJ. A case report of body stalk anomaly complicating a twin pregnancy.Arch Gynecol Obstet.2003;268:245–247.
4)Bornes M,...
