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1.
Birth Defects Res ; 116(6): e2366, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38872403

ABSTRACT

BACKGROUND: In addition to the potential for multiple pregnancies, natural conception occurring in preimplantation genetic testing (PGT) increases undesired genetic risk. Some studies showed that a dichorionic diamniotic twin pregnancy after a single blastocyst transfer could be caused by embryo splitting or concurrent spontaneous conception. CASE: We describe a patient undergoing PGT who had a dichorionic diamniotic twin pregnancy after single blastocyst transfer in a natural cycle. In this case, we recommended to determine genetic status of the twins by prenatal diagnosis. The results showed that karyotype, chromosome copy number variation, and parental ACAT1 variation of the twins were all normal and similar. To investigate the origin of pregnancy, we used the genotype data of single-nucleotide polymorphisms typical of genome-wide association studies. Dizygotic twins were inferred by robust estimation of kinship coefficients, which confirmed the occurrence of a spontaneous conception. CONCLUSIONS: This case strengthens the importance of genetic counseling to inform couples with reproductive genetic risk, such as those who undergo PGT, that intercourse should be avoided, especially in natural transfer cycles. Moreover, prenatal diagnosis remains essential and is strongly recommended to avoid genetic risks.


Subject(s)
Embryo Transfer , Genetic Testing , Pregnancy, Twin , Preimplantation Diagnosis , Humans , Female , Pregnancy , Preimplantation Diagnosis/methods , Genetic Testing/methods , Pregnancy, Twin/genetics , Adult , Embryo Transfer/methods , Twins, Dizygotic/genetics , Fertilization in Vitro/methods , Polymorphism, Single Nucleotide/genetics , Single Embryo Transfer/methods
2.
Transl Pediatr ; 11(4): 601-609, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35558975

ABSTRACT

Background: Dextro-transposition of the great arteries (D-TGA) is a rare congenital heart disease, as it affects only 0.02-0.05% of live births. It is the second most common cyanotic heart disease following Tetralogy of Fallot. It has a male predominance. Fetal echocardiography is an optimal method for prenatal diagnosis of fetal D-TGA. In twin pregnancies, fetal D-TGA in one twin is very rare, especially in monochorionic-diamniotic twin pregnancies. Herein, we report a case of D-TGA in one twin in two dichorionic-diamniotic twin pregnancies and one monochorionic-diamniotic twin pregnancy from January 2018 to June 2021. Case Description: One twin with D-TGA was diagnosed by fetal echocardiography in the second trimester, and the co-twin was normal in all three cases. A multidisciplinary team provided extensive counseling regarding the D-TGA twin and the co-twin, and adequate perinatal management was provided. In cases 1, 2, and 3, the mothers underwent cesarean sections at 37 weeks + 2 days, 34 weeks + 5 days, and 36 weeks + 1 day, respectively. In case 1, which involved a female D-TGA neonate with birth weight 2,410 g, an emergent atrial septostomy was performed at 20 h after birth, and the neonate underwent atrial switch operation (ASO) 24 days after birth. In case 2, involving a male D-TGA neonate with a birth weight of 2,380 g, ASO was performed 24 days after birth. In case 3, involving a female D-TGA neonate with birth weight 2,240 g, ASO was performed 19 days after birth and delayed sternal closure was performed 4 days later. All six infants showed normal development during follow-up. Conclusions: Early antenatal diagnosis of D-TGA in one fetus of a twin pregnancy is significantly important. A multidisciplinary team should carry individual evaluation and integrated management of the D-TGA twin and co-twin during the pregnancy and perinatal period. After birth, delayed ductus arteriosus closure in the D-TGA twins should be performed when necessary and individualized timings for arterial switch operation should be considered.

3.
BMJ Case Rep ; 14(5)2021 May 12.
Article in English | MEDLINE | ID: mdl-33980568

ABSTRACT

Limb body wall complex (LBWC) is a rare, lethal malformation characterised by body wall defects, craniofacial and limb anomalies with or without various other organ anomalies. We report a case of dichorionic diamniotic twin pregnancy discordant for LBWC, diagnosed by ultrasound (US) and confirmed by MRI at 21 weeks' gestation, managed expectantly and delivered at 35 weeks by emergency caesarean section with a favourable outcome of the unaffected twin. The anomalous twin, who died soon after birth, had a sizeable thoracoabdominal wall defect, eviscerated liver and bowel loops attached to the placenta, short cord, ectopia cordis, lung hypoplasia, kyphoscoliosis, right upper limb amelia and left clubfoot with polydactyly. MRI helps to demonstrate the fetal morphology better when there are limitations to the US due to unfavourable fetal position, multifetal gestation, maternal obesity or reduced liquor. In twin pregnancies, the management will depend on ensuring the survival of the unaffected twin.


Subject(s)
Cesarean Section , Pregnancy, Twin , Female , Fetus , Humans , Magnetic Resonance Imaging , Pregnancy , Pregnancy Reduction, Multifetal
4.
Rev. bras. ginecol. obstet ; 42(10): 621-629, Oct. 2020. tab, graf
Article in English | LILACS | ID: biblio-1144158

ABSTRACT

Abstract Objective The present study aims to determine if the use of cervical pessary plus progesterone in short-cervix (≤ 25 mm) dichorionic-diamniotic (DC-DA) twin pregnancies is equivalent to the rate of preterm births (PBs) with no intervention in unselected DC-DA twin pregnancies. Methods A historical cohort study was performed between 2010 and 2018, including a total of 57 pregnant women with DC-DA twin pregnancies. The women admitted from 2010 to 2012 (n = 32) received no treatment, and were not selected by cervical length (Non-Treated group, NTG), whereas those admitted from 2013 to 2018 (n = 25), were routinely submitted to cervical pessary plus progesterone after the diagnosis of short cervix from the 18th to the 27th weeks of gestation (Pessary-Progesterone group, PPG). The primary outcome analyzed was the rate of PBs before 34 weeks. Results There were no statistical differences between the NTG and the PPG regarding PB < 34 weeks (18.8%; versus 40.0%; respectively; p = 0.07) and the mean birthweight of the smallest twin (2,037 ± 425 g versus 2,195 ± 665 g; p = 0.327). The Kaplan-Meyer Survival analysis was performed, and there were no differences between the groups before 31.5 weeks. Logistic regression showed that a previous PB (< 37 weeks) presented an odds ratio (OR) of 15.951 (95%; confidence interval [95%;CI]: 1.294-196.557; p = 0.031*) for PB < 34 weeks in the PPG. Conclusion In DC-DA twin pregnancies with a short cervix, (which means a higher risk of PB), the treatment with cervical pessary plus progesterone could be considered equivalent in several aspects related to PB in the NTG, despite the big difference between these groups.


Resumo Objetivo Este estudo tem como objetivo determinar se o uso de pessário cervical associado a progesterona em gestações de gêmeos dicoriônicos-diamnióticos (DC-DAs) com colo do útero curto (≤ 25 mm) apresenta taxa de parto prematuro (PP) equivalente à de gestações gemelares DC-DA sem nenhuma intervenção/não selecionadas. Métodos Um estudo de coorte histórica foi realizado entre 2010 e 2018, incluindo um total de 57 mulheres grávidas com gestações gemelares DC-DA. As mulheres admitidas de 2010 a 2012 (n = 32) não receberam tratamento, e não foram selecionadas pelo comprimento cervical (grupo Não Tratado, GNT), enquanto as admitidas de 2013 a 2018 (n = 25) receberam pessário cervical rotineiramente associado a progesterona após o diagnóstico de colo curto entre a 18a e a 27ª semanas de gestação (grupo Pessário-Progesterona, GPP). O desfecho primário analisado foi a taxa de PP antes de 34 semanas. Resultados Não houve diferenças estatísticas entre o GNT e o GPP em relação ao PP < 34 semanas (respectivamente, 18,8%; versus 40,0%;; p = 0,07) e ao peso médio ao nascer do gêmeo menor (2.037 ± 425 g versus 2.195 ± 665 g; p = 0,327). A análise de Kaplan-Meyer foi realizada, e não houve diferenças entre os grupos antes de 31,5 semanas. A regressão logística demonstrou que o nascimento prematuro anterior (< 37 semanas) apresentou razão de probabilidades (odds ratio, OR) de 15,951 (intervalo de confiança de 95%; [IC95%;]: 1,294-196,557; p = 0,031*) para o nascimento prematuro < 34 semanas no GPP. Conclusão Em gêmeos DC-DA com colo uterino curto (o que significa maior risco de nascimento prematuro), o tratamento com pessário cervical associado a progesterona pode ser considerado equivalente em diversos aspectos relacionados à prematuridade no GNT, apesar da grande diferença entre os grupos.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Adult , Pessaries , Progesterone/administration & dosage , Uterine Cervical Incompetence/therapy , Cervix Uteri/diagnostic imaging , Pregnancy, Twin , Administration, Intravaginal , Cohort Studies , Gestational Age , Treatment Outcome , Premature Birth , Cervical Length Measurement
5.
BMC Pregnancy Childbirth ; 20(1): 479, 2020 Aug 20.
Article in English | MEDLINE | ID: mdl-32819302

ABSTRACT

BACKGROUND: Hemivertebra deformity, involving one or multiple vertebral bodies, is one of the important causes of congenital scoliosis. Congenital fetal hemivertebrae could be diagnosed by ultrasonography and confirmed by fetal magnetic resonance imaging during pregnancy. However, reports of hemivertebrae in twins during the perinatal period are very rare. CASE PRESENTATION: We report two cases of congenital fetal hemivertebrae, each affecting one fetus in a dichorionic diamniotic (DCDA) twin pregnancy. We have also conducted a literature review of its prenatal screening, diagnosis, management, and outcomes. These two cases of congenital fetal hemivertebrae in one fetus of a DCDA twin were both initially found by ultrasonography and confirmed by fetal magnetic resonance imaging (MRI). One couple chose selective termination of the hemivertebrae fetus after they were extensively counseled by the multidisciplinary team regarding the treatment and prognosis of the hemivertebrae twin, and a healthy baby weighing 2320 g was delivered at the 37+ 1 gestational week. The other couple decided to continue the twin pregnancy and gave birth to two living newborns weighing 2580 g and 2060 g at 37+ 1 gestational weeks. These three babies were all in good health during follow-up. CONCLUSIONS: Based on our center's experience, comprehensive ultrasonography is necessary for early prenatal diagnosis of this condition. In addition, fetal MRI will confirm the diagnosis of hemivertebrae and provide parents with helpful information for their decision about the fate of the affected fetus.


Subject(s)
Lumbar Vertebrae/abnormalities , Musculoskeletal Abnormalities/diagnostic imaging , Pregnancy Complications/diagnostic imaging , Spinal Diseases/diagnostic imaging , Thoracic Vertebrae/abnormalities , Adult , Female , Gestational Age , Humans , Infant, Newborn , Magnetic Resonance Imaging , Pregnancy , Pregnancy Outcome , Pregnancy, Twin , Prenatal Diagnosis , Spinal Diseases/congenital , Ultrasonography, Prenatal
6.
Case Rep Womens Health ; 22: e00114, 2019 Apr.
Article in English | MEDLINE | ID: mdl-31016138

ABSTRACT

INTRODUCTION: Morbidly adherent placenta (MAP) is a rare obstetric complication, especially in cases of multiple gestation. We present a case of MAP complicating a dichorionic diamniotic (DCDA) twin pregnancy requiring delivery by emergency cesarean hysterectomy at 30 + 2 weeks of gestation. CASE PRESENTATION: A 36-year-old woman, G3P2, with a DCDA twin pregnancy and known MAP presented to the labour ward at 30 + 2 weeks of gestation with evidence of pre-eclampsia and fulminating HELLP syndrome. Delivery was indicated due to fetal distress, demonstrated by pathological findings on cardiotocography, acutely deranged liver functions and worsening thrombocytopenia. An emergency cesarean hysterectomy was performed with postoperative monitoring in the intensive-care unit. The patient was discharged home on two oral antihypertensive agents. Her platelet count and liver functions were normalized prior to discharge. DISCUSSION: Delivery planning for pregnancies complicated by MAP should commence early in the antenatal period, especially in cases where there is an anticipated risk of preterm delivery, such as multiple pregnancy. Multidisciplinary elective and emergency care plans should be developed and include interventional radiology services when available. Established protocols help to standardize care of these high-risk pregnancies and aid in decision making in emergency scenarios, such as the one presented.

7.
Hippokratia ; 21(1): 46-48, 2017.
Article in English | MEDLINE | ID: mdl-29904257

ABSTRACT

BACKGROUND: Amniotic band syndrome (ABS) is a rare disorder which leads to a number of deformities of the fetus body. The treatment depends on the severity of the defect and the extent of the deformity. CASE REPORT: A 36-year-old primigravida with a dichorionic diamniotic (DCDA) twin pregnancy was diagnosed during the first-trimester ultrasonography with fetal lower part edema of one twin caused by amniotic bands. A selective termination of the affected fetus was performed. The remainder part of the pregnancy was normal. A healthy newborn was delivered at term. After delivering the placenta, the presence of fetus papyraceus was detected. The amniotic bands were unidentifiable in the pathologist's examination. A reliable ultrasonographic diagnosis enables the detecting ABS in early pregnancy. CONCLUSION: In the case of ABS in DCDA twin pregnancy, conducting a selective termination of the affected fetus creates the opportunity for the proper development of the healthy fetus as well as reaching its full maturity. HIPPOKRATIA 2017, 21(1): 46-48.

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