Jakub Kornacki

Congenital Midgut Volvulus Associated with Fetal Anemia

Congenital volvulus is a life-threatening condition, both for the fetus and for the newborn. A volvulus is a twist of small bowel loops or a proximal part of the colon around the mesenteric artery or its branches. The potential consequences of volvulus are ileus and necrosis of the intestinal wall. Prenatal diagnosis of midgut volvulus is difficult. It should be suspected antenatally when polyhydramnios, intestinal dilatation, ascites and/or signs of fetal anemia are present on ultrasound assessment. We report a case of a congenital midgut volvulus associated with fetal anemia. The fetal ultrasound performed at 32 weeks’ gestation showed a polyhydramnios, hydrothorax, thick ascites accumulation around the liver and the suspicion of a dilated bowel loop. Additionally, Doppler examination showed an increased value of peak systolic velocity in the middle cerebral artery. Cordocentesis confirmed significant fetal anemia. At 34 weeks, because of the suspicion of idiopathic meconium ileus and secondary anemia, a Cesarean section was performed after the administration of steroids. During the laparatomy, performed postnatally, a midgut volvulus was diagnosed. The affected portion of the ileum was resected and end-to-end anastomosis performed. An antenatal diagnosis of midgut volvulus should be considered when signs of fetal anemia, including an increased value of peak systolic velocity in the middle cerebral artery, are present with polyhydramnios, fetal ascites, dilated bowel loops on antenatal ultrasound. An assessment of the fetal hemodynamic status should be a part of the ultrasound assessment for patients with nonspecific fetal bowel pathologies, including congenital volvulus.

A Rare Case of Recurrent Fetal Goiter

We report the case of fetal goiter which occurred in two consecutive pregnancies in the same patients. The first one, due to too late diagnosis and no intrauterine treatment, contributed to the immediate postnatal death of the newborn; the second one was properly diagnosed at 19 weeks and then effectively treated prenatally which allowed to avoid the fatal complications for the fetus and the newborn.

Use of ex utero intrapartum treatment procedure in fetal neck and high airway anomalies – report of four clinical cases

Abstract Purpose: To present antenatal management and use of ex utero intrapartum treatment (EXIT) in different fetal neck and high airway anomalies. Material and Methods: We have presented four different cases of fetal neck or airway pathology which were indications for EXIT, at our department. Results: In three cases of fetal neck tumors, the primary precise antenatal diagnoses of tumors were confirmed after birth. The airways of all three fetuses were properly secured during EXIT by laryngologist. All these newborns survived. In the fourth case, a primary, antenatal diagnosis of congenital high airway obstruction syndrome due to severe trachea obstruction was not confirmed after birth. Finally, due to complete trachea dysgenesis, neither tracheoscopy nor tracheostomy was done during EXIT and the baby died. Conclusion: Despite a failure of intrapartum treatment in the fourth case, we strongly recommend this procedure for deliveries of fetuses with a suspicion of airway obstruction.

Intrauterine Treatment of a Fetal Lymphangioma With OK-432 May be not Effective

A 28-year old woman was referred to our unit at 27 weeks of gestation because of an ultrasound finding of a fetal neck mass. Ultrasound examination performed in our department confirmed the presence of a poorly vascularized multicystic mass of 4 cm on the anterior of the fetal neck. Based on ultrasound appearance, a lymphangioma was considered. Other fetal anatomical structures and the amniotic fluid volume were normal. Amniocentesis performed during the hospitalization revealed a normal fetal karyotype (46 XY). Three weeks later, at 30 weeks of gestation, the neck mass size had increased to 7,8 x 6 cm (figure 1). The amount of amniotic fluid remained normal. Because of the significant growth of the mass, intrauterine treatment was undertaken.

Polyhydramnios — frequency of congenital anomalies in relation to the value of the amniotic fluid index

OBJECTIVES The aims of our study were to assess the correlation between the amniotic fluid index (AFI) value and the frequency and type of fetal anomalies. MATERIAL AND METHODS The material included 94 patients at the third trimester of pregnancy, 60 with mild polyhydramnios, 19 with moderate one, and 15 with severe one. Polyhydramnios was diagnosed if AFI was > 24 cm. All patients were divided into three groups based on the value of AFI: 1) mild polyhydramnios with AFI between 24.1 and 29.9 cm, 2) moderate polyhydramnios with AFI between 30-34.9 cm, and 3) severe polyhydramnios with AFI ≥ 35 cm. RESULTS The incidence of fetal malformations correlated significantly with the degree of polyhydramnios and was the highest in patients with severe polyhydramnios (53.3%, p = 0.002). Congenital malformations of the gastrointestinal tract were the most frequent fetal anomalies in the whole group of patients (5.3%). Trisomy 18 was the most frequent aneuploidy found in women with polyhydramnios (2.1%). CONCLUSIONS The incidence of fetal congenital anomalies significantly increases with the degree of polyhydramnios, being most frequent in severe one and rather rare in a mild one. Congenital malformations of the gastrointestinal tract were the most frequent anomalies in patients with polyhy-dramnios, especially in women with severe polyhydramnios.

Fetal neck tumors – antenatal and intrapartum management

In this review article we describe the ante- and perinatal management of fetal neck tumors. Although there are rare congenital anomalies, the clinical consequences for the fetus may be fatal and include airways obstruction, heart insufficiency, pulmonary hypoplasia and cosmetic effect. The right management allows to decrease the fetal and neonatal mortality and morbidity associated with the disease. It includes intrauterine therapy in some cases, mostly in a goitrus hypothyroidism of the fetus, but firstly, an assessment of the fetal airways patency with a subsequent, eventual Ex-Utero Intrapartum Treatment (EXIT).

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing – report of a novel homozygous missense FRAS1 mutation

Current clinical diagnostic criteria of FS proposed by Van Haelst et al. (2007) include six major symptoms (cryptophthalmos spectrum, syndactyly, ambiguous genitalia, urinary tract abnormalities, laryngeal and tracheal anomalies, and positive family history) and five minor symptoms (anorectal malformation, skull ossification defects, dysplastic ears, umbilical defects, and nasal anomalies). FS can be clinically recognized if either three major criteria, or two major and two minor criteria, or one major and three minor symptoms are present in a patient (van Haelst et al. 2007). About half of the cases presenting with classical phenotype of FS are caused by FRAS1 mutations (OMIM 607830), while some other result from the FREM2 (OMIM 608945) or GRIP1 (OMIM 604597) gene lesions (McGregor et al. 2003; Jadeja et al. 2005; Shafeghatti et al. 2008; Vogel et al. 2012; Hoefele et al. 2013). In this paper, we report on prenatal presentation of the Fraser syndrome in a patient with multiple congenital anomalies. Wholeexome sequencing (WES) confirmed the diagnosis and demonstrated a novel homozygous causative missense mutation in FRAS1. We investigated a Polish family, in which three out of five children showed clinical symptoms of FS (for pedigree, see Fig. 1A). Molecular analysis was initiated in one of the affected offspring (index case II-5 born from G5), prenatally diagnosed with multiple congenital anomalies. In addition, we studied two unaffected brothers and both healthy parents of the proband. The proband was conceived by a healthy consanguineous couple (second cousins once removed), after four previous pregnancies. Their first and second pregnancy (II-1 and II-2) resulted in live birth of a male and a female newborn, respectively, who died a few hours after birth due to multiple congenital anomalies. The karyotype of the second child tested on the basis of fetal amniocytes was normal. Since DNA of both affected children was unavailable, genetic testing was not performed. The third and fourth pregnancies were uneventful and resulted in delivery of two healthy males (II-3 and II-4). In the fifth pregnancy, the 20-weeks ultrasound showed large, hyperechoic lungs of the fetus (Fig. 1B), pathognomonic for CHAOS (Congenital High Airway Obstruction Syndrome). The next fetal scan revealed additional anomalies including asymmetry of orbits, facial dysmorphism, including broad nasal bridge, and a suspicion of syndactyly. The parents decided to continue the pregnancy. The proband was born at 38weeks of gestation with body weight of 3590 g and died 1 h after birth due to multiple congenital anomalies, including laryngeal atresia. All other prenatally diagnosed or suspected abnormalities were confirmed after birth, including the complete syndactyly of both hands and feet and left cryptophthalmos. Due to ambiguous genitalia, phenotypic sex of the child was difficult to recognize. In order to confirm the clinical diagnosis of FS in our proband, we performedWES on a single DNA sample of the index patient (II-5). A novel homozygous missense FRAS1 variant c.10311C>G(p. Cys3437Trp) in exon 69 was identified (Fig. 1C). Sanger sequencing confirmed WES findings in the proband and demonstrated that both parents as well as their two healthy sons were the carriers of the heterozygous c.10311C>G(p.Cys3437Trp) alteration (Fig. 1D). The variant was predicted to be pathogenic by PolyPhen2 (1.0 score), Mutation Taster2 (1.0), and SIFT (0.0 score).

Use of Doppler in a second half of pregnancy

The article is a review of the literature on the use and clinical applicability of Doppler examination in the second half of pregnancy Nowadays, despite its accessibility Doppler ultrasound in pregnancy is often contraindicated. At the same time, the is no evidence of clinical utility of Doppler studies in a low-risk pregnancy The main indications for Doppler examinations in pregnancy include intrauterine growth restriction (IUGR), suspicion of fetal anemia, and complications of monochorionic twin pregnancy As far as IUGR is concerned, Doppler allows to diagnose IUGR associated with placental insufficiency and to differentiate IUGR from small for gestational age fetuses (SGA). Doppler is also very useful in making the decision about the time of delivery of IUGR fetuses. The assessment of the peak systolic velocity in the middle cerebral artery (PSV-MVA) reduced the rate of invasive procedures due to fetal anemia by approximately 70%. Complications of the second half of pregnancy which are indications for Doppler ultrasound include selective IUGR, TTTS and TAPS. Similarly to the first trimester, the mid-trimester assessment of the blood flow in the uterine arteries plays an important role in the prediction of preeclampsia and IUGR, especially early-onset forms of these complications.