Pregnancy in a woman with unilateral lung agenesis

Unilateral lung agenesis is a rare congenital condition of unknown etiology. A 33-year-old nullipara with right lung agenesis and scoliosis was admitted to the hospital at 30 weeks of gestation because of oligohydramnios. At 32 weeks she was treated for an upper respiratory tract infection with azithromycin. She went into premature labor at 34 weeks and was delivered by Cesarean for breech presentation. Both mother and infant did well.     

Prenatal sonographic chest and lung measurements for predicting severe pulmonary hypoplasia.

Pulmonary hypoplasia was diagnosed sonographically in 32 fetuses from 20 to 33 weeks of gestation. In addition to standard biometry, transverse thoracic diameter (TTD), sagittal thoracic diameter (TSD), thoracic circumference (TC) and lung diameter (LD) were measured in all cases and compared with known nomograms. The fetuses were divided into five groups according to the main sonographic findings: group 1-skeletal dysplasia; group 2-renal agenesis; group 3-diaphragmatic hernia; group 4-hydrothorax; and group 5-others. Severe pulmonary hypoplasia (PH) was diagnosed prenatally in all cases on the basis of LD measurements. In 17 (53.1 per cent) out of 32 cases TTD was below the 5th percentile while lower TSD measurements were recorded in 15 (46.8 per cent) fetuses. A thorax circumference below the 5th percentile for the respective gestational age was found in 15 cases (46.8 per cent) and a decreased LD/TC ratio in 25 cases (78.1 per cent). In 13 out of 32 fetuses pulmonary hypoplasia was diagnosed before, and in 19 cases after 24 weeks of gestation. Pulmonary hypoplasia was confirmed by autopsy in all cases. Conclusion: pulmonary hypoplasia can be sonographically detected before 24 weeks of gestation. In cases of skeletal dysplasia and renal agenesis pulmonary hypoplasia can be diagnosed by chest and lung measurements, whereas in diaphragmatic hernia and hydrothorax diagnosis of pulmonary hypoplasia is possible only by lung measurement.     

Parathyroid agenesis: prenatal ultrasonographic features and pathological findings

We report a girl with parathyroid agenesis. The gross anomaly of the long bones was diagnosed prenatally by ultrasound. Pregnancy was terminated at 24 weeks of gestation. There were no other apparent system anomalies except parathyroid gland agenesis and long bone abnormalities. This case is the first reported case of parathyroid agenesis with normal thyroid glands and other systems.     

Lung agenesis in a neonate presenting with contralateral mediastinal shift.

A neonate with right lung agenesis presenting with respiratory distress is described. The unusual radiological features were contralateral mediastinal shift (in contrast to expected ipsilateral shift) and diaphragmatic eventration on the affected side. Mediastinal shift to the opposite side was due to intrathoracic hepatic herniation under a high placed eventrated diaphragm. Both these features have not been reported in association with lung agenesis to date. The authors have discussed other causes of respiratory distress in newborns that can cause mediastinal shift and have urged a high degree of clinical suspicion to pick up the cases with lung agenesis. The newer diagnostic modalities and the causes of mortality in neonates with this anomaly have also been highlighted.     

Reliability of prenatal sonographic lung biometry in the diagnosis of pulmonary hypoplasia

OBJECTIVE: The purpose of the present study was to assess the value of biometric lung measurements for the diagnosis of severe fetal pulmonary hypoplasia by investigating whether a significant correlation between two-dimensional lung biometry measurements and autopsy findings could be established. METHODS: This was a prospective study carried out between 1995 and 1997. Nomograms for normal fetuses of the anterior-posterior and transverse inner thoracic diameters, which describe the growth and shape of the lung, were used as a basis for diagnosis of pulmonary hypoplasia in fetuses at high risk of developing the condition (the fetuses had bilateral renal agenesis or multicystic kidneys; chronic PROM <25 gestational weeks or hydrothorax). Pregnancy was terminated by abortion or intrauterine death in 29/43 high-risk fetuses and autopsies were performed. Only the 29 fetuses for which there were autopsy findings were included in the study. RESULTS: The best plane for diagnosing pulmonary hypoplasia was the four-chamber view. The diagnostic accuracy for this view as expressed by the sensitivity was 57% for the anterior-posterior diameter and 44% for the transverse diameter; as expressed by the specificity it was 42% for the anterior-posterior diameter and 50% for the transverse diameter. The results for the four-chamber view for the various high-risk conditions were as follows: for fetuses with chronic PROM we obtained sensitivities of 75% and 50% (anterior-posterior and transverse dimensions, respectively) and specificities of 80% and 60% (anterior-posterior and transverse dimensions, respectively). The sensitivities of lung biometry in fetuses with hydrothorax were 1% and 80% for the two diameters, but there was a low specificity. In fetuses with bilateral renal agenesis or multicystic kidneys we obtained sensitivities of 36% and 30% (anterior-posterior and transverse dimensions, respectively) and a specificity of 50% (anterior-posterior dimension). CONCLUSIONS: The present results show that two-dimensional lung biometry is not a suitable method for antenatal detection of pulmonary hypoplasia. However, in individual cases with high risk for pulmonary hypoplasia, lung biometry might prove to be an additional diagnostic parameter.     

Prenatal diagnosis of septal agenesis with normal pituitary function

Septal agenesis is a rare brain malformation that is characterized by partial or complete absence of the septum pellucidum, either isolated or associated with other brain anomalies. We report a case presenting with septal agenesis and normal optic chiasm and pituitary function in a fetus at 19 weeks of gestation.     

Prenatal management of inherited urogenital malformation: case report

Documentation of unique kidney renal function early in pregnancy can be helpful in defining prenatal management and therefore in improving prognosis. Antenatal diagnosis of a solitary kidney was performed at 20 weeks' gestation in a foetus with a 1,7 chromosome translocation. Because of the decreasing renal function and the increasing pelvic dilatation, an early in utero stenting was placed at 23 weeks' gestation. Optimal outcome occurred and the baby was delivered at 32 weeks. Complete assessment of the malformation showed a left hydronephrosis due to a megaureter, right renal agenesis with ipsilateral cryprorchidism and agenesis of the right vas deferens. The chromosomic translocation was inherited from the mother who was affected by uterus didelphys, obstructed right hemivagina and right renal agenesis. Renal function of the unique kidney with hydronephrosis can be early diagnosed and promptly treated. This condition should also increase the index of suspicion of underlying genital and chromosomal anomalies.     

Congenital cervical teratoma, associated with agenesis of corpus callosum and a subarachnoid cyst

Cervical teratoma is a neoplasm composed of embryonic tissues with representation of all three germ layers. We report an extremely rare case of fetal cervical teratoma presenting at 24 weeks of gestation. A submaxillary mass and agenesis of corpus callosum were identified on ultrasonography, associated with agenesis of corpus callosum and a subarachnoid cyst.     

First-trimester diagnosis of sirenomelia. A case report

We report a case of sirenomelia diagnosed at 13 gestational weeks. This rare malformation sequence is characterized by fusion and rotation of the lower limbs to various degrees and anorectal atresia, usually associated with absence of bladder and agenesis or dysgenesis of the kidneys. Diagnosis is commonly made later in the second trimester of pregnancy with oligohydramnios as the alerting sign. Survival is extremely rare, and only possible in the absence of bilateral renal agenesis. In view of the dismal prognosis, early diagnosis allows for earlier and less traumatic therapeutic abortion.     

Ossification timing of sacral vertebrae by ultrasound in the mid-second trimester of pregnancy

OBJECTIVES: The aim of the study was to establish the ossification timing of sacral vertebrae by ultrasonography in the second trimester of pregnancy, for the diagnosis of caudal regression syndrome with isolated sacral agenesis. METHODS: The study was carried out on 77 normal single pregnancies, at gestational ages ranging from 15 to 21 weeks, using high-resolution transabdominal echography. The sacral region was visualized in a coronal plane, when the fetus was in anterodorsal position. The level of ossification of sacral vertebrae (S1 to S5) at each gestational age was recorded. Each sacral region was examined three times by the same observer and the nucleus was considered as present when it was visualized at least two times out of three. Blind assessment was performed three times by a second observer, who was not present at the previous examination, for interobserver and intraobserver error analysis. RESULTS: Interobserver and intraobserver error calculation demonstrated the reproducibility of the method. Concordance between the two observers as evaluated by Cohen Kappa index was 0.77 (C.I. 95%, 0.69-0.85).S1 ossification nuclei were visualized in all fetuses at 15 weeks and S2 nucleus was found in all fetuses within 17 weeks. S3 nucleus was detected in 45% of fetuses by the beginning of the 16th week. S4 was visualized in 55% of the cases at 18 weeks and progressively in a higher percentage of cases during the following weeks of gestation. CONCLUSION: The data obtained showed that the sequence of development of sacral region ossification was related to gestational age. This observation allows clinicians to accurately exclude isolated sacral agenesis at 16 to 17 weeks of gestation, when the S1-S2 ossification nuclei are visualized. This opportunity may be of particular value in the offspring of diabetic mothers.     

The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis

The prenatal diagnosis by ultrasound examination of Joubert's syndrome of familial agenesis of the cerebellar vermis is described allowing termination of pregnancy at 26 weeks gestation. The diagnosis was made by a comparison of the prenatal ultrasound examination with computerized axial tomography obtained from the siblings with the same condition.     

Recurring bilateral renal agenesis diagnosed by ultrasound with the aid of amnioinfusion at 18 weeks' gestation.

Recurrent bilateral renal agenesis in siblings is very rare. Presented is a case diagnosed with sonographically aided amnioinfusion at 18 weeks in a woman with an infant affected with the same condition in a previous pregnancy.     

胎儿泌尿系统异常的宫内诊断与结局

目的:探讨胎儿泌尿系统异常的宫内诊断,动态观察其变化与结局,为优生优育提供理论参考及临床依据。方法:1995年1月至2003年10月开展前瞻性研究,对妊娠28周后,225例超声检查诊断为胎儿泌尿系异常者进行分类,观察结局。结果:225例中,单纯肾盂积水202例,占89.78%;多囊肾9例,占4.00%;肾盂积水伴输尿管积水8例,占3.65%;肾盂积水并输尿管积水及巨大膀胱2例,占0.89%;肾缺如4例,占1.78%。对单纯肾盂积水202例,每2～4周进行1次动态观察至分娩前,72.28%积水恢复至0级;观察至产后1周,积水恢复至0级者占92.08%;双侧输尿管积水、多囊肾、肾缺如共14例,终止妊娠13例,占92.86%,1例失访。结论:超声诊断胎儿泌尿系某些异常有较高的实用价值;不合并其他异常的单纯肾盂积水,可能与胎儿膀胱贮尿有关,是一种功能性、可逆性、良性变化;肾盂积水伴双侧输尿管积水者动态观察,积水加重者,多与泌尿系梗阻有关。双侧多囊肾及肾缺如,目前尚无特别治疗方法,一旦确诊应及早终止妊娠。     

Twenty-six triplet pregnancies: a retrospective analysis

Methods  Twenty-six triplet pregnancies were delivered over 6 years. Results  Over 80% of pregnancies resulted after infertility treatment (21/26). Mean maternal age was 32. On average, the infants were delivered after 32 + 0 weeks; in 4 cases delivery was at <28 weeks. In 1 case, the leading triplet was delivered spontaneously, the remaining babies by Caesarean. Main indications for Caesarean were: premature membrane rupture, premature contractions, maternal hospitalisation for foetal lung maturation/tocolysis/antibiotics. Mean birth weights were (triplet I–III): 1,730, 1,630 and 1,550 g. Hydrops fetalis and renal agenesis resulted in IUFD of the leading triplet in two cases. All newborns were cared for by neonatology. Conclusions  Triplet pregnancies are challenging for all specialities involved. They should be managed from an early stage in cooperation with an experienced centre, allowing outpatient care for as long as possible if there are no complications. This also has a cost-reducing impact.     

Hepatoblastoma as a cause of intrauterine fetal death. Case report

A hepatoblastoma was found in a 36 week stillborn infant. The tumour compressed the inferior vena cava and was the cause of hydrops foetalis. There was also agenesis of the gall bladder. Amniotic fluid alpha-fetoprotein levels at 15 weeks were normal and did not indicate the presence of the tumour.     

Sirenomelia in a monoamniotic twin: a case report

BACKGROUND: Sirenomelia is a rare congenital malformation characterized by fusion of the lower extremities and is associated with renal agenesis and absent bladder. Oligohydramnios usually occurs early in pregnancy. CASE: A 21-year-old primigravida with a twin gestation was diagnosed with sirenomelia in 1 of the twins at 18 weeks; they were delivered at 34 weeks. The infant was in perfect respiratory condition, lived for 5 days and died of nonpulmonary causes. CONCLUSION: Absence of oligohydramnios in monoamniotic twins allows free movement of the fetus in utero, facilitates the visualization of fetal organs on ultrasound and aids early prenatal diagnosis. It also delays the death of the sirenomelia infant due to the improved respiratory condition.     

Association between pulmonary hypoplasia and hypoplasia of arcuate nucleus in stillbirth.

OBJECTIVE: To investigate lung development and to correlate pulmonary hypoplasia with hypoplasia of the arcuate nucleus in stillbirths. STUDY DESIGN: We examined 26 stillbirths which occurred after 25 complete gestational weeks. The brainstem and the lung were the particular focus of this study. The brainstem was examined according to the protocol routinely followed in our Institute. As regards the lung examination, the development stage was evaluated on the basis of the correlation between lung and body weight (LW/BW), and according to microscopic parameters, that is, the presence of cartilaginous bronchi up to the distal level and the radial alveolar count (RAC). The normal reference values for the last 3 months of gestation correspond to >0.022 for LW/BW and from 2.2 to 4.4 for RAC. RESULTS: In 17 cases (65%) pulmonary hypoplasia was observed, characterized by a LW/BW value below 0.022 and RAC below 2.2. In nine cases (35%), microscopic examination of brainstem serial sections showed varying degrees of hypoplasia of the arcuate nucleus (ARCn). In eight cases (31%) the pulmonary hypoplasia was associated with hypoplasia/agenesis of the ARCn. CONCLUSIONS: This study demonstrated that in about a third of stillbirths there is a congenital hypodevelopment of both lung and arcuate nucleus. In these cases the ARCn hypoplasia would exert a negative effect on respiratory movements in utero and therefore on lung development. When the pulmonary hypoplasia is not accompanied by hypodevelopment of this nucleus the explanation could be a failure to block the inhibitory action of the K?lliker-Fuse nucleus.     

Warkany syndrome associated with agenesis of the corpus callosum

Trisomy of chromosome 8 (Warkany syndrome) is a rare chromosomal abnormality associated with retarded psycho-motor development, facial dysmorphism and other structural anomalies. We present a case report of fetal mosaicism of trisomy 8 at 30 weeks of gestation associated with agenesis of the corpus callosum as part of a larger polymalformation sequence.     

Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2).

A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29-year-old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non-visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. Fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders.     

Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation

Holoprosencephaly is a congenital anomaly characterized by lack of cleavage of the prosencephalon. Although, relatively rare, it is the most common anomaly that involves both the brain and the face. Prenatal diagnosis of this anomaly using ultrasonography, particularly of the less severe forms, is difficult. Magnetic resonance imaging has recently become an important complement to US in prenatal diagnosis of CNS anomalies. We herein report a patient in whom, at 23 weeks of gestation, US suggested agenesis of the corpus callosum and in whom, at 24 weeks of gestation, MRI correctly diagnosed lobar holoprosencephaly, which was confirmed by a postnatal MRI at 3 weeks of age.