Browsing by Author "Ganapaneni, Sruthi"

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    A BRCA1+ Patient with Twin Pregnancy of a Complete Mole with Complete Fetus
    (American Medical Women's Association, 2023-03-23) Yaqub, Amna; Taminack, Hope; Ungureanu, Ilinca; Ganapaneni, Sruthi; Tian, Wendy; Scifres, Christina; Robertson, Sharon
    Title: A BRCA1+ Patient with Twin Pregnancy of a Complete Mole with Complete Fetus Authors: Yaqub, A., Tominack, H., Ungureanu, I., Ganapaneni, S., Tian, W. MD, Scifres, C. MD, & Robertson, S. MD Background: A complete molar pregnancy is a non-viable pregnancy that results from the implantation of a diploid fertilized egg containing no maternal DNA. Twin pregnancy of a complete mole with complete fetus (CMCF) is a very rare occurrence with an incidence of 1/22,000 to 1/100,000 pregnancies. Continuing a CMCF pregnancy can result in many risks to the health of the mother and fetus. Case: A 35-year-old G3P2 female presented to an obstetric scan at 20 weeks gestation, which was suspicious for both a viable fetus and a molar pregnancy. She had no significant medical history other than being BRCA1+, with two previous uncomplicated pregnancies. Her initial ultrasound at 10 weeks gestation was indeterminate on whether this was a partial mole vs CMCF. The patient was offered the option to terminate the pregnancy due to risk of complications but chose to proceed with the pregnancy. Because she was BRCA1+ with a strong family history of breast and ovarian cancer, she had a planned Cesarean-hysterectomy with bilateral oophorectomy at 34 weeks. Mother and infant were discharged on postoperative day 2, and the pathology report of the placenta confirmed the removal of a complete mole. Serial β-hcg levels were followed after delivery. Clinical Significance: Due to the high risk of complications, pregnancy termination is typically offered to patients in this situation. Patients who choose to continue the pregnancy should be thoroughly informed of potential complications. Risks associated with continuing a CMCF pregnancy include preeclampsia, vaginal bleeding, intrauterine death of the fetus, and the development of gestational trophoblastic disease. This patient was also complicated by being BRCA1+, which impacted surgical planning. Conclusion: CMCF pregnancy is a rare occurrence with many associated risks. In BRCA1+ patients who choose to continue a CMCF pregnancy, extensive counseling is necessary with consideration for risk-reducing surgical management at time of delivery.
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    Cholestasis in the First Trimester Associated with Rare ABCG5/8 Variants: A Case Study
    (2022-07-28) Ganapaneni, Sruthi; Arul Dhas, Blessed Winston; Vuppalanchi, Raj; Quinney, Sara
    Cholestasis in the First Trimester Associated with Rare ABCG5/8 Variants: A Case Study Sruthi Ganapaneni 1, Blessed Winston Arul Dhas 2, Raj Vuppalanchi 2, Sara Quinney 2,3 1 Indiana University School of Medicine; 2 Indiana University School of Medicine, Department of Medicine; 3 Indiana University School of Medicine, Department of Obstetrics and Gynecology Purpose/Background: Obstetric cholestasis, or intrahepatic cholestasis of pregnancy (ICP), is a liver disease that usually presents in the third trimester of pregnancy. It is characterized by pruritis that is associated with elevated liver enzymes and bile acids. This condition can have potentially serious effects on the fetus due to the buildup of serum bile acids resulting from the obstruction of bile flow. Methods/Case Overview: A 28-year-old patient, who was pregnant for the third time, developed pruritis in the first trimester and presented with blood work that showed elevated total bile acids and liver enzymes. A medical history revealed similar symptoms amongst her female relatives during their pregnancies as well as the patient’s own previous pregnancies, suggesting a genetic component in the etiology of the disease. Genetic testing supported this hypothesis and showed variants of unknown significance that indicated a duplication in the ABCG5 and ABCDG8 genes. Results/Discussion: This finding was rather unusual as these genes have not yet been clinically associated with ICP. The ABCG5 and ABCG8 genes code for canicular bile transporters in the liver that transport cholesterol into the bile. Overexpression of these transporters due to the duplication in her genes may result in increased transport of cholesterol into bile, disrupting the regular composition of bile. The resulting increased bile viscosity may cause bile stasis or blockage, and this proposed mechanism can possibly explain the pathophysiology behind this unusual case of cholestasis. Conclusion and Potential Impact: ICP can have potential serious effects on the developing fetus, and its etiology is still being understood. The novel ABCG5/8 gene duplication is a novel variant that may lead to earlier onset of ICP than commonly known variants.
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    Fatty acid metabolism disorder not found on prenatal testing
    (2022-03) Nunge, Rebecca A; Grismore, Myranda; Ganapaneni, Sruthi; Waters, Hallie; Rouse, Caroline E
    Case Description: A 26 year old G3P2001 presented for amniocentesis due to a family history of carnitine palmitoyltransferase 2 (CPTII) deficiency. Her first child developed seizures and passed away soon after birth; CPTII deficiency was diagnosed on the newborn screen. Both parents were confirmed to be carriers. For her second pregnancy, she opted against invasive testing. The newborn was treated proactively. Testing confirmed the child was not affected, and treatment was halted. In the current pregnancy, she opted for amniocentesis, which revealed an affected male. Background: CPT II deficiency is a rare autosomal recessive disease caused by a mutation in a gene encoding carnitine palmitoyltransferase 2, an essential enzyme in fatty acid oxidation. Affected patients are at risk for hypoketotic hypoglycemia, seizures, hepatomegaly, cardiomyopathy, arrhythmias, and other downstream issues. A postnatal diagnosis via the newborn screen does not confer the benefit of advanced awareness of the disease and allow for preemptive treatment. CPT II deficiency can be confirmed prenatally with diagnostic testing. Amniocentesis is an invasive test associated with a low but present risk of pregnancy loss, so some may opt against the test. Conclusion: Carriers of CPT II mutations are counseled that future pregnancies confer a 25% risk of having an affected child. Prenatal diagnostic testing is recommended for prenatal diagnosis, which allows for planning of immediate treatment in the NICU. However, opting to forgo invasive testing and preemptively treat potentially affected child until newborn screening results return, as occurred in this patient’s second pregnancy, is also an option. Clinical Significance: CPT II deficiency is a rare disease that can have devastating effects in newborns without a known diagnosis. Parents with known carrier status must be extensively counseled on their options regarding prenatal and postnatal screening as well as immediate newborn care.