How to cite this article:
Budidapadu M, Vavilala S, Kolar G. Prenatal Diagnosis and Management of Fetal Goiter: A Case Series from Tertiary Perinatal Center in South India. Int J Infertil Fetal Med 2019; 10 (3):37-41.
Aims and objectives: The reported incidence of fetal goiter is 1 in 40,000 live births. The effects of fetal goiter and thyroid dysfunction are significant. The objective of our study is to assess the safety, feasibility, and efficacy of intra-amniotic instillation of levothyroxine (LT4) in fetal goitrous hypothyroidism. Materials and methods: A retrospective observational study of prenatally diagnosed cases of fetal goiter on routine antenatal ultrasound between January 2010 and January 2018 at Fernandez Hospital Foundation, Hyderabad, tertiary perinatal referral center. Data retrieved from electronic database. Results: During this period, 9 cases of fetal goiter were diagnosed on routine ultrasonography with the incidence of 1 in 7,000 live births. The gestation age at diagnosis ranged between 21 weeks and 29 weeks (mean 26 weeks). Of the nine fetuses with goiter, two were excluded as one ended in a miscarriage at 22 weeks and the other was terminated elsewhere at 26 weeks. Data were analyzed in the remaining seven fetuses. Cordocentesis was performed in five fetuses and amniocentesis was performed in one woman with dichorionic diamniotic (DCDA) twin gestation which revealed hypothyroid status. Fetal therapy was offered to all the remaining seven fetuses with intra-amniotic instillation of LT4 100 to 200 μg at 2–3 weeks’ interval. First dose of LT4 was given at mean gestation of 27 weeks (range 23–30 weeks), and the mean time between the identification of fetal goiter and the first dose of LT4 was 6 days (range 2–15 days). Number of injections given ranged between 1 and 7. No adverse events were recorded. Follow-up sonogram showed subjective reduction in the goiter size. All the babies had hypothyroidism at birth. Conclusion: Our case series confirms the safety and feasibility of intra-amniotic instillation of LT4 for fetal goitrous hypothyroidism. Although fetal therapy has resulted in reduction in the size of the goiter, the thyroid hormone levels at birth were low. Further research is required to establish the proper management guidelines for this disorder.
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Vembu R, Devi MN, Nellepalli SR, Pandurangi M, Nagireddy S. Impact of Body Mass Index on the Prevalence of Metabolic Syndrome among Infertile South Indian Women. Int J Infertil Fetal Med 2019; 10 (3):42-45.
Aim and objective : To study the prevalence of metabolic syndrome (MBS) in different body mass index (BMI) group infertile women in both polycystic ovarian syndrome (PCOS) and non-PCOS subgroups. Materials and methods: A prospective cross-sectional study of all infertile women attending the outpatient in the department of reproductive medicine and surgery in a tertiary care center catering patients from South India was conducted. These women were categorized based on BMI into groups as ≤23 kg/m2, 23.1–25 kg/m2, 25.1–27 kg/m2, 27.1–30 kg/m2, and >30 kg/m2. They were further subdivided as PCOS and non-PCOS based on Rotterdam criteria (2003). These women underwent screening for MBS according to the modified American Heart Association/National Heart Lung Blood Institute AHA/NHLBI (ATP III 2005) definition. The results were analyzed for significance by the unpaired t test and the Chi-square test. Results: A total of 1,030 infertile women were analyzed. The mean age was 28.8 ± 4.5 years; mean BMI was 26.9 ± 3.7 kg/m2. More than 90% of women had waist circumference >80 cm. The prevalence of MBS among the infertile women was 35.3% and among PCOS and non-PCOS women was 44.7 and 28.9%, respectively. Even though there was statistically no significant difference in the metabolic parameters among PCOS and non-PCOS subgroups in different BMI cutoff levels, there was an increase in abnormal metabolic parameters with increase in BMI. The prevalence of MBS in the BMI groups among PCOS women was 11.1, 28.1, 29.7, 51.8, and 73.6%, respectively (p = 0.0005) and among non-PCOS women was 4.9, 20.4, 24.6, 41.6, and 66.7%, respectively (p = 0.0005). Conclusion: The BMI is an independent risk factor for MBS in both PCOS and non-PCOS infertile women. Clinical significance: Screening for MBS in infertile women helps in early identification and primary prevention by lifestyle modification helps in delaying long-term consequences of type 2 diabetes mellitus and cardiovascular diseases.
Ovarian hyperstimulation syndrome (OHSS) is a potential iatrogenic life-threatening situation. It is difficult to decipher OHSS pathophysiology.1 The occurrence is directly proportional to estradiol in blood, follicle number, and human chorionic gonadotropin (hCG) with more chances of happening in polycystic ovarian disease. Complete prevention of OHSS is never possible, but endocrine profile and ultrasonographic follicular monitoring are the mainstay of its prediction. Complications such as hemoconcentration, hypovolemia, and thromboembolism can occur. Withholding hCG, continuation of gonadotropin-releasing hormone analogs, coasting, agonist trigger, intravenous albumin, dopamine agonists, and cryopreservation of embryos are cornerstones of OHSS prevention.2 Mild OHSS usually requires no active therapy. Moderate and severe cases have to be treated. Surgery may be needed in ruptured ovarian cysts, torsion, or concomitant ectopic pregnancy. Transvaginal paracentesis is recommended in cases of severe ascites. Inpatient management is typically based on preventing complications such as derangement of kidney and liver functions, thrombosis, and severe respiratory depression. Recent ART treatment protocols behold more patient-friendly mild ovarian stimulation regimes that are individualized depending on patient’s ovarian reserve.3
Arzoo M Chadha,
Asawari A Deo
Endometrial osseous metaplasia is a rare pathological condition characterized by the presence of bone-like tissue in the endometrium and can be a cause for menstrual abnormalities and infertility as bone in the endometrium can act like an intrauterine contraceptive device. It is a rare entity with an estimated incidence of 3/10,000. Exact etiopathogenesis is not known but the most accepted theory is metaplasia of stromal cells into osteoblast cells, which results in the formation of bones. The possibility of malignant mixed Mullerian tumor should also be kept in mind. Here, we report one such case of primary infertility in a 27-year-old woman presenting with history of oligomenorrhea. Endometrial stromal (osseous) metaplasia is a condition that is rarely seen and may have a potential to be overlooked and misdiagnosed. It is important to recognize the non-neoplastic nature of this condition to avoid misinterpretation as malignant mixed Mullerian tumor of the uterus. Its contraceptive nature makes it an extremely rare but treatable cause of infertility. Complete removal of bony spicules by hysteroscopy can help regain fertility.
Taghreed A Shalabi,
Mohamed S Abdel-Hamid,
Mai M Shaker
How to cite this article:
Shalabi TA, Abdel-Hamid MS, Shaker MM. Two Novel Variants in NLRP7 Gene in an Egyptian Female Patient with Consecutive Molar Pregnancies Complicated by Choriocarcinoma. Int J Infertil Fetal Med 2019; 10 (3):54-57.
Background: Hydatidiform mole, whether complete or partial mole, is one of the most common forms of gestational trophoblastic disease. It is characterized by extreme trophoblastic proliferation and atypical embryonic growth. Though almost all of complete hydatidiform moles are diploid androgenetic, scarce cases are biparental and caused mainly by mutations in NLRP7 and KHDC3L genes. NLRP7 mutations are more common and were reported in around 50–80% of cases from diverse populations while KHDC3 mutations were only found in 5–10% of cases. Case description: A healthy 40-year-old Egyptian woman was referred to the Clinic of Prenatal Diagnosis and Fetal Medicine Department for counseling. She was married for 20 years to a first-degree relative and experienced 17 consecutive pregnancy losses without having any live births. Uterus ultrasound revealed endometrial thickening and subseptate uterus and in her last pregnancy failure, she complained of abdominal pain and severe shortness of breath. Immunochemistry tests were positive for β-human chorionic gonadotropin and histopathology-confirmed choriocarcinoma. Genetic testing revealed two novel heterozygous variants in the NLPR7 gene. Conclusion: We presented a case with 17 recurrent hydatidiform moles that was complicated by choriocarcinoma due to novel variants in the NLRP7 gene. Clinical significance: This is the first Egyptian case with recurrent hydatidiform mole. We identified novel NLPR7 variants, thus expanding the mutational spectrum associated with this rare disease.
How to cite this article:
Kulkarni KS, Dhanvij MP, Goel A. Complicated Triplet Gestation Reduced to Twins with Partial Hydatidiform Mole and a Coexisting Live Fetus: A Case Report Managed in a Tertiary Care Center. Int J Infertil Fetal Med 2019; 10 (3):58-62.
Pregnancies with hydatidiform mole and a live fetus are extremely rare, arising in about 1 in 20,000–100,000 pregnancies. Multifetal gestations are increasing due to increase in infertility treatment, and so the complications related to it are on the verge of rising. Also, the partial mole with live fetus is a rare entity, and only few cases are reported in the literature. The objective of the study is reporting a rare case and reviewing the available literature in an attempt to make clinical guidelines. We are reporting a case of 36-year-old, elderly primigravida with in vitro fertilization conception at 29.1 weeks of gestation with severe preeclampsia. She was triplet gestation in early ultrasonography scan reports, and fetal reduction was done at 11 weeks and reduced to twins. A lower segment cesarean section was done, and a healthy male fetus of 1,100 g was delivered. Placenta of the live triplet and the fetus papyraceous (200 g) was delivered with a thin cord attached to hydatidiform molar placenta and vesicles. The dilemma is whether to continue such pregnancy or to terminate it, as it is a critical issue to solve. The watchful monitoring of such cases can provide optimum outcome and prevention of metastasis.