Volume 1, Issue 1-2

We present two patients who delivered vaginally following a prior cesarean section in whom uterine rupture was detected a few minutes after delivery. Both deliveries occurred within 12 h. The sonographic findings were different in each case and consistent with the clinical and operative findings. Ultrasound may assist in the diagnosis of uterine rupture following delivery.

The prenatal diagnosis of thrombocytopenia-absent radius (TAR) syndrome by ultrasound is established. The sonographic findings showed bilateral absence of the radii and club hands with normal thumbs and metacarpals. Thrombocytopenia was identified from the postabortal cord blood. Three-dimensional computerized tomography images confirmed the sonographic diagnosis. This report, to our knowledge, is one of the few cases published in the literature about the prenatal diagnosis of TAR syndrome.

Cervical pregnancies are a rare form of ectopic pregnancies. The reported incidence is estimated to affect one in 1000 to 18,000 pregnancies. Whereas true cervical pregnancies are rare, cervico-isthmic pregnancies are more common, and in addition more lethal as the maternal risk for massive hemorrhage increases with the advancement of the gestational period. Risk factors include tubal disease, uterine surgery as well as in vitro fertilization. We report a case of a 35-year-old woman at 20 weeks of gestation who was referred to our department because of cervical shortening and recurrent painless vaginal bleeding. Transvaginal ultrasound revealed that the placental implantation site was located within the cervix and the uterine isthmus while the fetus was developing in the uterus. Furthermore, we suspected placenta accreta. After counseling expectant management was chosen. At 31+5 weeks of gestation the patient developed severe vaginal bleeding leading to an emergency cesarean section with hysterectomy after an unsuccessful effort to stem the hemorrhage conservatively. The pathology report confirmed our sonographic findings. It can be concluded that cervico-isthmic pregnancies are rare implantation disorders that require interdisciplinary peripartum management. Expectant management can be offered. Preterm delivery and probable requirement of a hysterectomy need to be discussed with the patient.

Introduction: The increasing rate of cesarean sections is an important issue globally, especially in developed countries. During the last decade, despite decreasing rates of vaginal delivery attempts after a previous cesarean section, the risk of uterine rupture has remained. Uterine rupture is a significant and catastrophic obstetric complication associated with maternal and fetal morbidity and mortality. We report here a very rare case of prelabor uterine rupture with intact membranes. Case report: A 28-year-old, gravida 3, para 2 Turkish woman was referred to our emergency unit at 34 weeks’ gestation because of the absence of fetal movements and abdominal pain. She had had a vaginal birth in 2007 and a cesarean section in 2009. In the delivery room, the fetal extremities were palpated at the abdominal wall, and an ultrasonography revealed ruptured uterus and fetal death. A midline laparotomy was carried out to open the peritoneal cavity. An intact amniotic sac with fetus was observed in the abdominal cavity, and the uterus was also observed to be ruptured. The male fetus, weighing 2500 g, was dead. The rupture was extending from the left lateral side of cervix to the fundus. The tear was repaired by primarily suturing the uterus in two layers after ligation of the left uterine artery to control hemorrhage. The total estimated blood loss was about 1300 mL. The patient received two units of blood transfusion during the operation. In the 4 th postoperative day, the patient was discharged. Conclusion: Complete uterine rupture is a rare but catastrophic event, and if diagnosed late, can result in mortality. Uterine rupture is rare during a trial of vaginal labor in a patient with a history of cesarean section; it is much rarer to occur before any trial of vaginal labor in such a patient. If a patient with a history of cesarean section, especially with an unknown type of incision, presents with complaints of abdominal tenderness or vaginal bleeding in the 3 rd trimester, the possibility of complete uterine rupture must be considered.

Aim: To report a case of hyperreactio luteinalis in a spontaneously conceived pregnancy. Patient: A 29-year-old primigravida presenting with painful multicystic ovarian lesions. Methods: Laparotomy and reconstruction of the ovaries. Main outcome measures: Successful pregnancy and delivery of a 3650 g female infant at 39 weeks, without any abnormalities. Results: Highly elevated human chorionic gonadotropin, estradiol, progesterone, testosterone, and free testosterone levels were observed. Ultrasound revealed bilaterally enlarged multicystic ovaries with several cysts of up to 9 cm in diameter. Conclusions: In this case, laparotomy appeared to be an appropriate therapy to prevent further suffering in the mother without doing harm to the fetus.

An 18-year-old single mother presented for counseling following the diagnosis of a hypoplastic left heart syndrome in the fetus. Despite being encouraged by her family members to terminate the pregnancy, the clinicians involved endeavored to provide information in a non-directive manner in accordance with widely accepted norms for antenatal counseling. Following the consultation, however, the clinicians wondered whether they should have provided more directive advice. In this report, we review the ethics of counseling following the diagnosis of a severe fetal cardiac abnormality. We assess the general and specific arguments in favor of providing directive advice, at least in some circumstances. There may be legitimate concerns about harms to the fetus, to the mother, or to the wider community from continuing a pregnancy. While these arguments yield rare exceptions to the generally accepted practice that antenatal counseling should not be directive, they may still not apply to the more severe forms of congenital cardiac abnormalities.

The York antigen, assigned to the Knops system (KN5-ISBT 022005), is a high frequency antigen present in 90% of the Caucasian and 98% of the African-American population. No cases of anti-Yka in pregnancies have been published. No hemolytic diseases of the fetus and newborn have been observed previously. We report the first case of anti-Yka antibody found in a pregnant woman without fetal anemia, which was monitored by Doppler assessment of peak systolic velocity at the middle cerebral artery. A 36-year-old white woman, gravida 2, para 2 (1994 and 1996) was transfused with two units of packed red cells in 2009. On July 1, 2011 at 13 weeks of gestation of her third pregnancy, “type and screen” showed blood group 0 RhD positive and was found to have one IgG antibody that reacted against all panel red blood cells in the anti-human globulin phase by gel technique. The antibody was identified as anti-Yka and titer was 64. The patient’s phenotype was YK(a–). Peak systolic velocity at the middle cerebral artery, performed by Doppler, at weeks 25, 28, 32 and 34 of gestation did not show fetal anemia. At birth, the newborn was group 0 Rh (D) positive, Yk(a+) with direct Coombs test negative without anemia and hyperbilirubinemia. Our case contributes, as further evidence, to the clinically benignity of the anti-Yka antibody not been a cause of hemolytic disease of the fetus and newborn.

Background: A review of the English literature from 1980 to 2010 revealed only six gravidas managed by total parenteral nutrition (TPN) for at least 16 weeks of pregnancy. We found only two gravidas with obstruction due to malrotation, both managed surgically. Case: We report a unique case of bowel obstruction presenting in the second trimester due to congenital malrotation of the small intestine that was conservatively managed by prolonged TPN, with the delivery of a healthy term baby girl. Surgical correction was delayed until the patient was not pregnant. Conclusion: Intestinal obstruction in pregnancy is rare, and malrotation of the small bowel as the cause is extremely rare. This is the first case of intestinal obstruction in midtrimester in which prolonged TPN was employed when surgery was contraindicated. TPN may be considered if surgery cannot be performed, with an excellent outcome likely.

Background: Identifying women with past and present drug abuse is an essential aspect of prenatal care. Case: Despite having typical telltale physical signs of prior subcutaneous drug injections, a 33-year-old pregnant woman who had regular prenatal care visits with multiple obstetric care providers was only identified as a drug abuser after a cesarean section, when her skin scars were identified by one provider as the result of “skin popping” related to injections of illicit drugs before this pregnancy. Conclusion: This case demonstrates that obstetricians must become aware of the telltale signs of drug abuse, such as subcutaneous injections (skin popping) with illicit drugs leading to scaring of the arms and other parts of the body.

There is a paucity of data on the perinatal management of achalasia, an esophageal dysmotility disorder involving an abnormal relaxation of the lower esophageal sphincter. Botulinum toxin A is a well-described treatment for achalasia in the non-pregnant state but has been infrequently used for treatment of this condition in pregnancy. We describe a case of a successful treatment of achalasia in the first trimester of pregnancy with botulinum toxin A, and a subsequently uncomplicated pregnancy course and pregnancy outcome.

Severe ovarian hyperstimulation syndrome (OHSS) affects 2–4% of in vitro fertilization (IVF) patients, which may rarely result in an ischemic stroke secondary to a hypercoagulable state. We describe a case of a 38-year-old IVF patient who developed early-onset OHSS with a viable pregnancy who presented at 18 days post embryo transfer with an ischemic stroke resulting from a thrombus in the right middle cerebral artery. As the use of recombinant tissue plasminogen activator was relatively contraindicated owing to a recent intra-abdominal drain placement, a radiologically guided thrombectomy was performed. This resulted in neurological improvement in the mother and the birth of a normal term infant, without significant ionizing effects to the developing embryo.

Introduction: The management of chronic myeloid leukemia (CML) during pregnancy is a matter of continued debate. Imatinib therapy for CML might be associated with fetal anomalies and discontinuation of the drug with disease progression. We present the achievement and management of a pregnancy in a woman with both CML and epilepsy. We describe the first uneventful pregnancy and successful delivery of a healthy, normal baby in a patient with CML and epilepsy. Case report: A 25-year-old woman with both CML and epilepsy presented with infertility to our in vitro fertilization unit. She has CML diagnosed 5 years ago and epilepsy 9 years ago. She was on imatinib therapy for CML and valproic acid therapy for epilepsy. She became pregnant with ovulation monitoring in a spontaneous cycle. Because the patient was asymptomatic and stable, she stopped imatinib therapy and was observed with only a single antiepileptic drug, valproic acid, during the entire pregnancy. No problem occurred during the pregnancy, and she delivered a healthy baby by cesarean section at 38 weeks’ gestation. Conclusion: The management of CML during pregnancy might be individualized on the basis of clinical manifestations, and close observation without any intervention may be an option after proper counseling of the patient. A healthy birth is possible in a well-controlled pregnancy in a woman with both CML and epilepsy.

Delayed postpartum hemorrhage, defined as bleeding following delivery up to 6 weeks postpartum, is a risk following cesarean or vaginal delivery. Episodes most commonly occur between 8 and 14 days postpartum. Here, we present a case of a 24-year-old woman presenting with delayed postpartum hemorrhage 14 days after delivery, which later proved to be caused by left uterine artery hemorrhage. The hemorrhage was refractory to local treatment and required invasive measures to prevent hypotensive shock. In lieu of a hysterectomy, a unilateral uterine artery embolization (UAE) was performed to preserve fertility in this 24-year-old patient. Three-dimensional power Doppler ultrasonography was performed 3 weeks after UAE to assess the volume and vascularity of the pelvic structures. This case illustrates a viable intervention for women with postpartum hemorrhage who desire to preserve future fertility, as well as a method to detect structural and vascular changes after the treatment to evaluate their future fertility prospects.

Congenital hemangiomas (CHs) are rare benign vascular tumors that are present at birth after full development in utero . With the increasing importance of prenatal screening and improved imaging techniques, vascular tumors will be detected more frequently during examination. Ultrasonographers and obstetricians should be aware of these vascular tumors, their differential diagnosis and prognosis. Not only caregivers need optimal counseling, but also the professionals involved should have knowledge about these anomalies because of an increased risk of complications during and after the delivery of the child. Here, we present a child with a CH of the leg and discuss prenatal diagnosis, intra-partum management, and postnatal follow-up.

Orofacial clefts are the most common group of craniofacial anomalies. The detection rate of cleft lip during the mid-trimester, using two-dimensional (2D) ultrasound screening, has improved over the last three decades. However, the detection rates of defects involving the hard palate or isolated cleft palate have remained poor. Over the last decade, many investigators have studied the use of 3D ultrasound to improve the detection rates of these defects. With the increasing use and acceptance of first-trimester aneuploidy screening in the US, there is growing interest in performing first-trimester fetal anatomy surveys. Reports of first-trimester diagnosis of cleft lip and palate are rare, and this aspect of prenatal sonographic diagnosis remains underexplored. We report a case of unilateral cleft lip and cleft palate diagnosed during a routine first-trimester screening at 12 weeks’ gestation and review the pertinent literature on first-trimester diagnosis of cleft lip/palate.

The vein of Galen aneurysm is the most common form of symptomatic cerebrovascular malformation in neonates and infants. This anomaly may be diagnosed prenatally by several imaging modalities and causes high cardiac output, which may lead to cardiac failure, in newborns. Total anomalous pulmonary venous return is a rare entity that makes up approximately 0.4%–2% of all congenital heart diseases. The most common type of total anomalous pulmonary venous return is the supracardiac type. The pulmonary veins drain to a confluence posterior to the heart and then to a vertical vein, most commonly on the left, which enters the innominate vein and the drains to the right atrium. Obstructed pulmonary veins with supracardiac-type total anomalous pulmonary venous return can cause severe cardiac and respiratory failure. In this article, a case of a neonate with a vein of Galen aneurysm diagnosed prenatally by magnetic resonance imaging, and a supracardiac obstructed type of total anomalous pulmonary venous return with pulmonary hypertension is presented.

Background: Constitutional deletions of chromosome 19q were rarely reported in the literature. The array-comparative genome hybridization (CGH) helps to identify four children with 19q13 microdeletion and the microdeletion of 19q13.11 is a recent emerging syndrome. We report one fetus with 19q12q13.12 deletion diagnosed prenatally and compare with five cases in the literature. Case: The 29 year-old woman was at the 27 th week of gestation. Prenatal ultrasound revealed severe intrauterine growth restriction and left side multiple cystic kidney with normal amniotic fluid index. Cordocentesis was performed for karyotyping and array CGH. Results: The karyotype of the fetus was considered as normal male. The BAC array CGH identified one deletion at chromosome 19q12q13.12. The oligonucleotide array CGH further characterized the size of the breakpoint (chr19:35,116, 199-42,994,905). After counselling, the pregnancy was terminated at the 28 th week of gestation. The aborted fetus had hypospadias and facial dysmorphisms. Conclusions: Although a complete genotype-phenotype may not be established in these patients with 19q13 deletions, they shared some unique phenotypes and facial dysmorphisms. The clinician should keep in mind when anomalies are detected prenatally, array CGH may help to identify the etiology, which is critical for counselling.

Congenital periventricular pseudocysts are found in about 1–5% of neonates. These pseudocysts originate from the persistence of the germinal matrix and have a good prognosis, disappearing in the first months. Periventricular pseudocysts are rarely detected in the fetus. We describe a case of prenatal detection of periventricular pseudocysts by prenatal transvaginal ultrasound and a three-dimensional technique. Prenatal ultrasound showed partial regression of the pseudocysts. At postnatal ultrasound, the complete disappearance of the pseudocysts was detected.

Twin-to-twin transfusion syndrome (TTTS) is a severe complication of monochorionic twin pregnancies. This condition is associated with high mortality if untreated. Treatment consists of either serial reduction of amniotic fluid or selective laser photocoagulation (SLP). In utero limb ischemia is a known complication of TTTS. An interaction between this condition and SLP has never been established. Here, we describe the first of twins born at 34 weeks’ gestational age, delivered by emergency cesarean section for fetal distress after a pregnancy complicated by severe TTTS. The first twin, the recipient in the TTTS, showed a necrotic right limb, which was amputated above the knee joint on the 23 rd day of life. Anatomic-pathological investigation revealed vascular thrombosis. The foot-length was compatible with a gestational age of 16–18 weeks, the time of limb ischemia, which is well before 26 weeks, when SLP was performed. Therefore, we refute that the fetal limb ischemia was a complication of SLP.

To the best of our knowledge, we report the first case of a successful antenatal intervention in a double twin reversed arterial perfusion (TRAP) sequence in a monoamniotic monochorial triplet pregnancy. After diagnosis during first-trimester ultrasound, fetoscopic coagulation and transection of the umbilical cords of both acardiac members was performed at 16 weeks of gestation. The immediate postoperative course was complicated with iatrogenic preterm premature rupture of membranes, which was successfully reversed with an amniopatch procedure. Consequent sonographic assessments showed a healthy fetus with normal growth and development, together with progressive atrophy of the acardiac fetuses. Owing to placental abruption, an urgent cesarean section was performed at 32 weeks. A baby girl of 1600 g was born in good general condition. Except for the butts of the transected umbilical cords, there were no remnants of the TRAP twins to be distinguished. After a neonatal follow up of 64 days, the baby girl could be discharged.

There are various numerical abnormalities of umbilical cord vessels known in the literature, the single umbilical artery being the most prevalent. A four-vessel umbilical cord is found less frequently, and moreover, is less well-known in daily practice. A persistent right umbilical vein, however, can be associated with potentially serious congenital defects. A case of a four-vessel umbilical cord containing two arteries and two veins is presented. The literature on this subject reports both a differentiation between the two variants, intrahepatic and extrahepatic, which can be distinguished during antenatal ultrasound screening, and a possible association with congenital abnormalities, some of which can carry substantial morbidity and mortality. Although the incidence of a four-vessel umbilical cord is low, its presence should be considered both during routine antenatal ultrasound screening and on physical examination of any neonate.

Hydranencephaly is a fetal central nervous system disorder in which most of the cerebral hemispheres are damaged and largely replaced with cerebrospinal fluid. We present susceptibility-weighted imaging findings in an infant with hydranencephaly, who showed foci of signal loss mainly at the peripheral portion of the thalamus and falx cerebri. Although the exact cause of hydranencephaly has not been established, these findings suggest previous hemorrhage and parenchymal destructive changes.

Pseudotrisomy 13 syndrome is determined by the combination of three findings: holoprosencephaly, postaxial polydactyly, and a normal karyotype. We report two cases of a prenatal diagnosis of pseudotrisomy 13 syndrome and one case of a suspected hydrolethalus syndrome, another disorder with a similar phenotype and karyotype. Thorough literature search yields limited information, and the genetic cause of this syndrome remains unclear; however, it is thought to be monogenic and inherited as an autosomal recessive disorder. Given the poor prognosis and the easily recognizable malformations associated with this disease, it is important to perform an early diagnosis.

Carey-Fineman-Ziter syndrome is characterized by facial diplegia with an ophthalmoplegia comprising the Moebius sequence, Pierre Robin sequence with micrognathia, short stature, postnatal-onset microcephaly, hypotonia and muscular hypoplasia, extensive brainstem involvement, and pontine hypoplasia. We report a 38-week-gestation infant with features consistent with Carey-Fineman-Ziter syndrome but with phenotypical features that have not previously been described. The infant had severe hypoplasia of the pons and cerebellum, seizures, hypotonia, ophthalmoplegia, downslanting palpebral fissures, tongue hypoplasia, micrognathia, and facial diplegia. The karyotype was normal. Of note, there was a focal contour abnormality in the anterior two-thirds of the tongue, which necessitated tracheostomy on the third day of life to maintain the airway, and a well-circumscribed mass on both sides of the chest. These features have not been previously found to be associated with this syndrome, and the clinical significance is unknown. Case reports of rare disorders give significant information on the diagnosis, description, and evolving phenotype of rare syndromes.