Fernandez Hospital is a premier speciality Hospital for women and newborns in Hyderabad established in 1948. It has been providing efficient, reliable and personalized health care of a very high professional level for over 60 years.
To describe and compare maternal and perinatal outcomes in adolescent versus adult pregnancies at a tertiary perinatal referral network in South India. This hospital-based cross-sectional study included 1,022 adolescent pregnancies (≤ 19 years) compared with 90,911 pregnancies among women aged 20–34 years, at the study site between January 2013 and December 2023. Maternal characteristics, obstetric complications, mode of delivery, and neonatal outcomes were analysed using data extracted from an electronic medical record system. Adolescent pregnancies accounted for 1.03
Renal artery pseudoaneurysm is a rare but potentially life-threatening vascular condition, particularly when it occurs during pregnancy. Delayed recognition may lead to catastrophic haemorrhage with significant maternal and foetal morbidity. We present a case of a pregnant woman diagnosed with a renal artery pseudoaneurysm during the antenatal period who was successfully managed with endovascular embolisation. Prompt imaging, coordinated multidisciplinary care, and minimally invasive intervention enabled stabilisation of the condition and continuation of pregnancy, resulting in favourable maternal and neonatal outcomes. This case underscores the importance of early diagnosis and highlights endovascular therapy as a safe and effective treatment option during pregnancy.
Abstract BHLHA9 gene encodes Basic helix-loop-helix (bHLH) proteins which are transcription factors that regulate embryonic development specifically the limbs by regulating the apical ectodermal ridge. Pathogenic variants in this gene are associated with Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD), Complex camptosynpolydactyly and Split-hand/foot malformation with long bone deficiency-3 (SHFLD3). Purpose To present a rare case of Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) associated with a same homozygous BHLHA9 variant in a non-consanguineous couple, highlighting the phenotypic spectrum of the disorder, emphasizing the importance of genetic testing in clarifying inheritance patterns in rare limb malformations and underscoring the role of exome sequencing in diagnosis. Methods We evaluated a non-consanguineous couple, both of whom presented with syndactyly and oligodactyly. Detailed clinical examination and radiographic assessment were performed to document limb abnormalities. Whole-exome sequencing was carried out, and variant interpretation was performed according to ACMG/AMP guidelines. Results Exome sequencing identified a homozygous likely pathogenic variant, c.252_270delinsGCA (p.Phe85Glufs*108) in BHLHA9 gene [NM_001164405.2] associated with MSSD. This frameshift variant is predicted to disrupt the normal protein function. The variant has previously been described in two affected individuals from a consanguineous Pakistani family. Conclusions This report describes a rare occurrence of MSSD associated with the same homozygous BHLHA9 variant in a non-consanguineous Indian couple, with recurrence in the offspring and variable phenotypic expressivity.
