Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of SHOX haploinsufficiency was distinct in each case. In four cases, SHOX haploinsufficiency was inherited from a previously undiagnosed parent. In our de novo case, SHOX haploinsufficiency reflected the formation of a derivative sex chromosome during paternal meiosis. Final adult height in the SHOX-deficient parents ranged from -1.9 to -1.2 SDS. All affected parents had disproportionately short limbs and two affected mothers had bilateral Madelung deformity. To our knowledge, SHOX haploinsufficiency has not previously been reported to present in utero. Our experience illustrates that SHOX deficiency should form part of the differential diagnosis of foetal short long bones and suggests a low threshold for genetic testing. This should be particularly targeted at, but not limited to, families with a history of features suggestive of SHOX deficiency. Data on the postnatal growth of our index cases is presented which demonstrates that antenatal presentation of SHOX haploinsufficiency is not indicative of severe postnatal growth restriction. Early identification of SHOX deficiency will enable accurate genetic counselling reflecting a good postnatal outcome and facilitate optimal initiation of growth hormone therapy.
Electronic fetal heart rate monitoring is a useful monitoring tool to assess intrapartum fetal wellbeing and has been shown to improve perinatal outcomes in at-risk fetuses. This article describes the benefits, criticisms of its use during labour, the pathophysiology and care pathway based on the cardiotocogram features.
a registered nurse and midwife and now an emeritus professor in public health in Sweden, has had vast experience in the field of public health, abortion issues, maternity care, adoption, etc. In this book, she brilliantly describes the feelings of women undergoing the procedure of termination of pregnancy. She also describes the turmoil and the feelings within the partners who are responsible for the pregnancies .
Antenatally diagnosed urinary tract anomalies form approximately 20% of fetal malformations. Renal pelvic dilatation forms 2-3% cases.
Embryologically, the renal organogenesis is complex involving multitude of pathologic factors. Obstruction to urinary flow at specific stages of nephrogenesis can affect renal function in different ways. The management of such cases require multidisciplinary management involving fetal medicine specialists, paediatrician, urologist and radiographers.
This study involved identification of fetuses renal pelvic dilatation amongst all renal anomalies at anomaly scan between July 2009 and March 2010. Further follow-up scans at 28 and 34 weeks were performed antenatally.
There were 44cases of renal anomalies from 3362 fetuses born during that period. There were 31 fetuses with renal pelvic dilatation, of which 25 (80%) were unilateral and 6 (20%) were bilateral. These were further categorised into mild (8-<10mm), moderate (10-15mm) and severe (>15mm). All fetuses were found to be low risk for Downs' syndrome. 87% of cases were male fetuses.
These neonates were followed up for up to 6 months age with renal ultrasound and further tests, where appropriate in the form of MCUG, MAG III or DMSA scan to achieve diagnosis, outcome and plan further management.
The study highlighted that renal pelvic dilatation >10mm are associated with poor or guarded prognosis affecting functioning of the kidney/s. Antenatal counselling by paediatrician and paediatric-urology team provided a good opportunity to understand the condition, possible outcome and care in neonatal and childhood period. Obstetric intervention in the form of early delivery is not likely to alter the prognosis.
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