Spontaneous Triplet Pregnancy Research Articles

Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while 3β-hydroxysteroid dehydrogenase type 2 deficiency accounts for less than five percent of all CAH cases. We report two Moroccan twins from a spontaneous triplet pregnancy. The 46,XY newborn exhibited a disorder of sexual differentiation (DSD) with hypo virilization, while the 46,XX newborn had normal female external genitalia. In the first week of life, they showed hyponatremia and primary adrenal insufficiency with a slight 17OHP elevation and increased DHEAS and renin levels. The aCGH-SNP analysis disclosed a 8.36 Mb long contiguous stretch of homozygosity (LCSH) on chromosome 1p13.2-p11.2 including the candidate HSD3B2 gene, a LCSH of 7.3 Mb on 14q31.1-q32.11, and a 7 Mb duplication on 10q22.3-q23.2. Clinical exome sequencing revealed the biallelic c.969T > G (p.Asn323Lys) HSD3B2, likely pathogenic, variant in both of the affected twins. This case emphasizes the importance of a prompt molecular diagnosis performed through the combination of aCGH and clinical exome, both for establishment of correct therapy and for follow-up, as the newborns also carry a genomic rearrangement with possible clinical implications.

7675 Tri-Topic Pregnancy: A Case of Spontaneous Triplets in Three Distinct Locations

<h3>Study Objective</h3> To present a case of spontaneous triplet pregnancy consisting of a single intra-uterine pregnancy and two distinct ectopic pregnancies and review the literature regarding interstitial pregnancy management. <h3>Design</h3> Case report. <h3>Setting</h3> Tertiary care hospital. <h3>Patients or Participants</h3> One patient. <h3>Interventions</h3> 29-y/o G3P2002 at approximately seven weeks gestational age by LMP with history significant for two prior full-term cesarean sections presented to the emergency department with severe, sudden onset abdominal pain. Beta-HCG was greater than 200,000. Bedside transabdominal ultrasound was limited by degree of pain; however, it revealed a fetal pole measuring eight weeks with cardiac activity surrounded by a sizable layer of myometrium, as well as an additional fetal pole with cardiac activity laterally with a thin surrounding layer of myometrium. Given severe pain in early pregnancy, ruptured ectopic pregnancy was presumed and the patient was consented for a diagnostic laparoscopy and removal of ectopic pregnancy. Intraoperatively, approximately 500cc of hemoperitoneum and both an interstitial pregnancy and an ampullary pregnancy were appreciated. Laparoscopic unilateral salpingectomy and cornuectomy were performed. Ultrasound postoperatively surprisingly demonstrated a third remaining viable intrauterine pregnancy. The patient denied any history of ART. <h3>Measurements and Main Results</h3> Pathology confirmed ectopic pregnancies in both specimens. Laparoscopic excision of two ectopic pregnancies was safely performed in this patient with maintenance of a viable, intrauterine pregnancy. Excision of the interstitial pregnancy posed greatest risk to both the patient and concurrent intrauterine pregnancy. Care was taken during cornuectomy to minimize entry depth into surrounding myometrium and blood loss. <h3>Conclusion</h3> The incidence of heterotopic pregnancy without ART is approximately 1 in 30,000. Furthermore, interstitial pregnancies make up only 1-4% of ectopic pregnancies. Laparoscopic management of interstitial pregnancies has been repeatedly demonstrated as a safe approach. We present a rare case of a ruptured triplet heterotopic pregnancy with minimal risk factors managed successfully with laparoscopic removal technique and maintenance of intrauterine pregnancy.

Spontaneous fetal reduction in triplets and prolongation of twin pregnancy for 111 days as an\xa0outpatient: a case report

BackgroundMultiple gestation has been on the rise because of advancement in assisted reproductive technology. Triplet pregnancy is associated with fetal loss and preterm birth as its major complications. Spontaneous triplet pregnancy is rare. In the case of fetal loss, delayed interval delivery has been used to achieve delivery of the retained fetuses. There is no common approach to delayed interval delivery.CaseA 31-year-old East African lady with spontaneous triplet pregnancy presented to our institution at gestation age of 19 weeks with features of threatened miscarriage. One fetus was miscarried, and delayed interval delivery was done as an outpatient. At gestation age of 35 weeks, she delivered healthy twins by cesarean section.ConclusionDelayed interval delivery improves neonatal outcomes of high-order pregnancy after fetal loss even in a resource-limited setting.

Spontaneous triplet pregnancy and trap sequence, case report

BackgroundSpontaneous multiple pregnancies are rare, and the incidence of spontaneous triplet pregnancy is about 1/4000. TRAP (Twin Reversed Arterial Perfusion) sequence has acardiac foetus with non-viable multiple anomalies, and there is a pump foetus which feeds this foetus with placental anastomoses. TRAP sequence phenomena is quite rare in triplet pregnancies.Case presentationThe patient who applied to our clinic was 30 years old. Monochorionic diamniotic triplet pregnancy was detected by ultrasonographic examination. First amniotic sac had one foetus (Foetus A). Ultrasonographic evaluation of Foetus A revealed gestational age of 31 weeks, adequate amniotic fluid and no fetal structural anomalies. The second amniotic sac contained 2 foetuses and polyhydromnios. Ultrasonic measurements of Foetus B were consistent with 32 weeks gestational age. Color flow doppler indicated Foetus B was the pump foetus. Foetus C was an acardiac foetus with no sonographic visualization of cranium, thoracic organs or extremities, but abdominal circumference consistent with 28 weeks. Pregnancy was followed conservatively and evaluated regularly by ultrasonography twice a week. When prolonged bradycardia was detected in fetus B at 35 4/7 weeks, emergency cesarean section was performed. Two healthy fetuses weighing 2 kg were delivered each with an 8/10 APGAR score (Appearance, Pulse, Eye Insertion, Activity, Respiration).ConclusionThis case was managed without any invasive procedures and demonstrates that treatment of TRAP sequence cases can be individualized considering clinical conditions, the size of the acardia twin and extent of placental venous anastomoses.

Our results of spontaneously conceived triplet pregnancies

The natural incidence of spontaneous triplet pregnancy is approximately 1 in 8000 births. Premature delivery of one fetus, compromise of one fetus, and death of one fetus of a multiple gestation with healthy co-fetuses are complications unique to multiple gestations. Our purpose was to evaluate the outcome of spontaneous triplet gestations. In this retrospective study, maternal, neonatal data were collected from 25 sets of triplet pregnancies that were diagnosed between 2011 March and December 2013 in Zekai Tahir Burak WomenÂ’s Health Education and Research Hospital - Obstetric Department. There were 15 sets of trichorionic triamniotic triplet pregnancies and 10 sets of triplet pregnancies with a monochorionic pair (ie, dichorionic triamniotic triplets). The mean maternal age was 28 (20-33). 75% of patients were primigravida. 50% of patients (12 patient) had abortus (gave birth before 20 weeks). 3 patients gave birth about 33 weeks, birth weights were about 2100-2150 grams.4 patients gave birth about 30 weeks ,with birth weigths of 1800-1850 grams. 2 patients had spontaneous abortion of all fetuses after fetal reduction. Two patients (8%) had complication of postoperative endometritis. 3 patients had preeclampsia (12%). The incidence of dichorionicity in our study of spontaneous triplet pregnancy is 40%. Perinatal mortality was increased in dichorionic pregnancies. The abortus rate was 80%. Although abortus rate was high in spontaneous triplet pregnancy,gestational age at delivery was about 33 weeks. This is because of our hospitalÂ’s condition to be a tertiary hospital in obstetrics and neonatology.

Spontaneous triplet pregnancy with twin fetuses papyraeci: a rare case report and review of the literature

A fetal death in a multiple pregnancy with one or more normally surviving fetus is unusual. Fetus papyraceous (FP) is a rare obstetric complication in multiple gestations. It is defined as retention of a mummified parchment like remains of a dead fetus in multiple pregnancy associated with a viable twin. It is important to reassure the patient of the normal outcome expected in most of the cases. Herein, we report a rare case of twin FP in a spontaneous triplet pregnancy with a literature review of maternal and neonatal outcomes and management of similar cases.

Infant Lymphoblastic Leukemia: A Single Center Experience

Infantacute lymphoblastic leukemia (ALL) is a rare disease and consist of 4-5% of all childhood ALL. Despite improved survival rates of childhood ALL, infants with ALL have a worse prognosis . There were 206 patients diagnosed with ALL at Hacettepe University, Pediatric Hematology Department between 1 January 2008 and 31 December 2016, 11 out of 206 (5.3%) were diagnosed as infant ALL. We aimed to evaluate clinical findings, laboratory results and treatment outcome of our infant ALL patients retrospectively. There were 9 boys and two girls with a median age of 8 months (range 1-12 months) and nine out of 11 (82%) were older than 6 months of age at the initial diagnosis. Interestingly 2 of 3 siblings born from spontaneous triplet pregnancy diagnosed at the same time when they were 7 months old while the other sibling diagnosed 4 months later when he was 11 months old. Physical examination revealed hepatosplenomegaly in 10 out of 11 patients and 1 patient had extramedullary involvement with subcutaneous nodules on the forehead. On admission median WBC count was found 202x10-9/L (range 37.4-739x10-9/L) with a median hemoglobin level 9 g/dL (range 2.6-12.9 g/dL) and median platelet count 81x10-9/L (range10- 314x10-9/L). Immunophenotyping revealed CALLA+ B cell leukemia in 3 patients, CALLA- B cell in 6 patients and T cell leukemia in 2 patients. Cytogenetic analysis showed t(4;11) positivity in 4 patients and 3 of them were spontaneous triplets. Initial CNS involvement were positive in 2 of the patients. Eight patients (73%) were treated with Interfant protocols (Interfant 99 (n=4), Interfant 06 (n=4)) and 3 patients received Modified St. Jude Total XV protocol. Relapse were observed in 2 patients (one had both CNS and bone marrow relapse one year after the completion of chemotherapy and the other experienced an early bone marrow relapse at the 7thmonth of the treatment). Hematopoetic stem cell transplantation (HSCT) was performed in five patients from matched related donor (n=2), unmatched related donor(n=1), and matched unrelated donor(n=2). Moreover, relapse after HSCT was observed in 2 patients 3 and 4 months later; one received second transplantation and survived while the other died because of progressive disease. Four of the five patients who had HSCT survived 74 months, 45, 18 and 13 months after the initial diagnosis, respectively. After a median of 18 months (range 4- 74 months ) follow-up period 6 patients are alive (45 %) and on remission 4 after HSCT and 2 with only chemotherapy. Infant leukemia usually presents with high hyperleucocytosis and extramedullary involvement. The prognosis is poor and international colloborative studies reprorted that 4 year -event free survival rates were between 28-54%. Our results suggest that bone marrow transplantation seems to be a good and efficient choice of treatment. However there is still a big issue to decide which patient should go under transplantation and more studies are needed to reevaluate the eligibility criteria for HSCT in this group of patients. Moreover to the best of our knowledge infant leukemia in triplets without monozygocity were first time reported. DisclosuresNo relevant conflicts of interest to declare.

Extremely delayed delivery of second and third fetus in spontaneous triplet pregnancy

Delayed deliveries in multiple gestations occur rarely, and there are no explicit guidelines covering procedures after the delivery of the first fetus or attempts to delay further deliveries. Our c...

Twin fetuses papyraeci in a spontaneous triplet pregnancy presenting with unexplained preterm contractions

Fetus papyracie in a triplet pregnancy is indeed rare and can pose serious management challenges. These challenges are more pronounced where facilities for monitoring are either inadequate or nonexistent. A 39-year-old, grand multipara multipara was referred to the University of Maiduguri Teaching Hospital at 27 weeks gestation with preterm contractions. Materno fetal monitoring did not reveal the cause of the preterm contractions. She was delivered via caesarean section, at 36 weeks of gestation, on account of decreased fetal movement and the products were a live female fetus weighing 2.3 kg and two male papyraceous fetuses weighing 150 g and 130 g, respectively.