Osteogenesis Imperfecta type 1: like mother, like daughter - Challenges in the perinatal management.

A third gravida with osteogenesis imperfecta (OI) type 1, in her 20s, was referred from the Medical Genetics department at 12+ weeks with a prenatal diagnosis of OI type 1 in this fetus for further management. She was wheelchair-bound and keen to continue this pregnancy. She had medical termination in her two previous pregnancies for OI in the fetuses. Ultrasound at 12+ weeks revealed a short-bent femur with sparing of the long bones of the upper limb. Serial ultrasound revealed progressive affliction of the long bones with falling growth profile and polyhydramnios. She was delivered at 36 weeks by caesarean for breech in labour under regional anaesthesia.A multidisciplinary approach, patient determination, and good partner support helped in the successful management of this pregnancy.The neonate had blue sclera, dentigerous imperfecta, bowing of the femur and relatively spared upper limbs. Growth was on the third centile. The mother says she brings the girl for follow-up every 3-6 months to give injection zoledronate. The mother confirms her girl can stand with support, crawl, and speak two-syllable words. Her daughter had to undergo femur corrective osteotomy rush nailing and hip spice application for a closed fracture of the left femur.

Clinical utility of aortic isthmus Doppler in the prediction of perinatal outcomes.

BACKGROUND: Doppler studies of uteroplacental-fetal circulation have been proven useful in diagnosing fetal growth restriction, appropriately timing delivery, and improving perinatal morbidity and mortality. There has been an extensive search for the ideal means to identify fetuses between the compensatory and acidemic phase (ie, the "preacidemic phase"), and the aortic isthmus Doppler seems to show promise. OBJECTIVE: This study aimed to investigate: (1) the prevalence of abnormal aortic isthmus Dopplers in a cohort of small-for-gestational-age fetuses and their correlation with other conventional Doppler abnormalities, and (2) the predictive ability of abnormal aortic isthmus Dopplers with regard to short-term adverse neonatal outcomes. STUDY DESIGN: Fetuses diagnosed as small-for-gestational-age at ≥24 weeks' gestation were included. Management was as per the standard protocol. Aortic isthmus Doppler was performed within a week of delivery with other conventional Dopplers. The adverse perinatal outcomes studied were: requirement of neonatal resuscitation at birth, Apgar score at 5 minutes <7, cord blood pH <7, presence of bronchopulmonary dysplasia, hypoxic-ischemic encephalopathy, grade III/IV intraventricular hemorrhage, necrotizing enterocolitis, sepsis, neonatal intensive care unit stay longer than 14 days, and stillbirth or neonatal death. RESULTS: Among 121 small-for-gestational-age fetuses, 67 showed Doppler abnormalities in ≥1 vessels. The prevalence of abnormal aortic isthmus Doppler was 14.87%. Analysis was between group 1 with 103 normal aortic isthmus and group 2 with 18 abnormal aortic isthmus fetuses; 41 cases had some form of adverse perinatal outcome, the frequency of which was comparable between the groups. Abnormal aortic isthmus Doppler had a significant correlation with low cerebroplacental ratio, absent or reversed end-diastolic flow in the umbilical artery, and high pulsatility index in the ductus venosus. The positive likelihood ratio for predicting composite adverse perinatal outcome was 10.2 for absent or reversed end-diastolic flow in the umbilical artery, 9.6 for low cerebroplacental ratio, 2.28 for absent or retrograde flow in the aortic isthmus, and 2 for abnormal ductus venosus. CONCLUSION: Predelivery abnormal aortic isthmus Dopplers performed worse than other conventional Dopplers in predicting abnormal perinatal outcomes.

Successful management of three cases of interstitial pregnancies with local instillation of potassium chloride: avoiding a potential cornuostomy.

Here, we present three cases of women with interstitial pregnancy who were managed with local instillation of potassium chloride. These women were in their 20s-30s and presented in stable condition. Of them, two had a history of previous ectopic pregnancy. Interstitial pregnancy was diagnosed by transvaginal sonography which showed an empty uterine cavity with a gestational sac 1 cm away from the lateral edge of the uterine cavity, with <5 mm myometrium surrounding it in all planes. Two of the three cases failed to respond to methotrexate injection. Due to the presence of high-end ultrasound machine and technical expertise, local instillation of potassium chloride was offered as an alternative to surgical treatment, which is definitive, and all three patients had a successful outcome. One patient returned with pain in the abdomen, which required inpatient monitoring and was later diagnosed with urinary tract infection and was given appropriate antibiotics.