Interstitial pregnancy: A retrospective case series of surgically managed patients over a ten-year period.

AIMS: To describe the ultrasound diagnostic features and surgical management procedures for patients with an interstitial ectopic pregnancy in our tertiary institution and associated peripheral hospital over a ten-year period. METHODS: A retrospective audit of all surgically managed cases of interstitial pregnancies over a ten-year period at a tertiary hospital and one associated peripheral hospital in New South Wales. RESULTS: Sixteen cases of surgically managed interstitial pregnancy were identified. In 43.8% of these cases, patients had previously undergone an ipsilateral salpingectomy. No cases required hysterectomy, post-operative methotrexate or return to theatre. Ten patients underwent diagnostic ultrasound prior to operative management, seven of which were correctly identified to be an interstitial ectopic pregnancy at the time. The proportion of cornuostomies being performed for interstitial pregnancy compared to wedge resection has increased over the period of this review from 33 to 60% between the two five-year periods. CONCLUSION: The combination of expert ultrasound and sophisticated laparoscopic techniques at our institution has facilitated earlier diagnosis and greater use of minimally invasive management of interstitial pregnancy.

Sonographic Assessment of Fetal Sex: More than External Genitalia.

Early identification of fetal sex is possible due to both improved ultrasound resolution and the incorporation of cell-free DNA testing into routine prenatal screening services. While ultrasound assessment of the external genitalia generally suffices, there are instances where identification of the internal genitalia becomes vital to allow accurate prenatal diagnosis and comprehensive counseling. This manuscript outlines the methodology and clinical utility of assessing fetal genitalia beyond conventional sonography from the second trimester onward and is the first to describe direct visualization of the fetal vagina.

Bruck Syndrome: Beyond the Obvious.

INTRODUCTION: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragility, and fractures. Two genes have been associated with Bruck syndrome, FKBP10 and PLOD2, though they are phenotypically indistinguishable. CASE PRESENTATION: We present a prenatally diagnosed case of Bruck syndrome in a young multiparous woman, with no notable personal, family or obstetric history. A 12-week ultrasound raised the suspicion of short long bones, subsequently confirmed at 16 weeks. In addition, bilateral fixed flexion of the elbow, wrist, and knee joints as well as talipes was observed. Chromosomal SNP microarray analysis (0.2 Mb) detected a homozygous deletion at chromosome 3, band q24, involving a part of PLOD2 to a part of PLSCR4. At mid-trimester morphology, bilateral intrauterine fractures of the humerus and femur were evident. In the late third trimester, a fetal echocardiogram noted enlargement of the right heart with severe tricuspid regurgitation in combination with pulmonary insufficiency and a restrictive arterial duct. The potential risk of premature closure of the ductus arteriosus near term led to delivery by emergency caesarean section. CONCLUSION: To our knowledge, this is the first case of Bruck syndrome prenatally confirmed by chromosomal microarray analysis and the second reported case with an extra-skeletal abnormality. This case highlights the importance of comprehensive fetal morphological assessment during pregnancy as diagnosis of an additional abnormality has the potential to impact both management and prognosis.

Pregnancy complicated by refractory severe hypercholanaemia from sodium taurocholate co-transporting polypeptide deficiency.

Sodium taurocholate co-transporting polypeptide deficiency is a rare metabolic autosomal recessive condition resulting in critically elevated plasma bile acid levels. Hypercholanaemia in similar conditions such as intrahepatic cholestasis of pregnancy has been associated with an increased risk of adverse obstetric outcomes including stillbirth. We present the first case of Sodium taurocholate co-transporting polypeptide deficiency in a current pregnancy in a patient with one previous stillbirth in the context of severe hypercholanaemia, where conventional treatments for cholestasis including ursodeoxycholic acid, rifampicin and cholestyramine were ineffective. Therapeutic plasma exchange and novel treatment with elobixibat were trialed with mixed results. The pregnancy resulted in an iatrogenic preterm delivery of a live infant at 32 weeks gestation.

Prenatal Diagnosis of a Facial Teratoma. A Proposed Approach to Diagnose Prenatal Facial Anomalies.

We report on a rare case of a prenatally diagnosed isolated facial teratoma, presenting as an avascular elongated ossified lesion arising from the inferior lateral rim of the orbit. There was no evidence of fetal compromise throughout the course of the pregnancy, which resulted in term delivery of a healthy neonate by elective Caesarean section. We summarize the key features, differential diagnoses, prognosis and management of fetal facial lesions.

Discordant fetal sex on NIPT and ultrasound.

Prenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell-free DNA testing, the diagnosis of a disorder of sexual differentiation was serendipitous, either through identification of ambiguous genitalia at the midtrimester morphology ultrasound or discovery of genotype-phenotype discordance in cases where preimplantation genetic diagnosis or invasive prenatal testing had occurred. The widespread integration of cfDNA testing into modern antenatal screening has made sex chromosome assessment possible from 10 weeks of gestation, and discordant fetal sex is now more commonly diagnosed prenatally, with a prevalence of approximately 1 in 1500-2000 pregnancies. Early detection of phenotype-genotype sex discordance is important as it may indicate an underlying genetic, chromosomal or biochemical condition and it also allows for time-critical postnatal treatment. The aim of this article is to review cfDNA and ultrasound diagnosis of fetal sex, identify possible causes of phenotype-genotype discordance and provide a systematic approach for clinicians when counseling and managing couples in this circumstance.

Surgical Management of Complete Procidentia in a Female Patient with Bladder Exstrophy-epispadias Complex: Case Report and Literature Review.

We herein describe the operative approach of a postmenopausal woman with a history of surgically corrected congenital bladder exstrophy-epispadias who presented with long-standing complete procidentia. The patient was initially treated by laparoscopic sacral colpopexy in conjunction with a modified Elevate mesh kit anterior vaginal repair with and posterior vaginal wall repair in the form of native tissue suture plication repair. Her prolapse recurred 8 months' later due to a detachment of the mesh at the level of the promontorium. During the second-look laparoscopy, a resuspension of this mesh was deemed unsatisfactory; therefore, with patients' consent, a successful colpocleisis was performed. This case report emphasizes the complexity of pelvic organ prolapse (POP) in the context of a bladder exstrophy-epispadias complex. These women are more likely to fail the more conventional current surgical treatments for POP, coercing to revert to colpocleisis.

Rare autosomal trisomies: Important and not so rare.

OBJECTIVE: Noninvasive prenatal testing (NIPT) can assess chromosomes other than 13, 18, 21, X and Y. These rare autosomal trisomies (RATs) can adversely affect pregnancy outcome. METHODS: A prospective study of NIPT using the Illumina sequencing platform assessing all chromosomes were reported for further management. RESULTS: There were 28 RATs identified in 23 388 samples (one in 835), the most common being trisomy 7 (n = 6), followed by trisomy 16 (n = 4) and trisomy 22 (n = 3). Abnormal outcomes occurred in 16 cases: miscarriage (n = 6), true fetal mosaicism (n = 5), and fetal structural anomaly on ultrasound (n = 5). Growth restriction was seen in eight cases and correlated with very low-pregnancy-associated plasma protein-A levels. Two of the 17 live born babies had a structural anomaly, and one had a phenotype similar to mosaic trisomy 16 despite a normal microarray result. CONCLUSION: Rare autosomal trisomies are not rare and often associated with poor obstetric outcomes. They should be discussed with the clinician to guide management. Pregnancy outcomes varied by chromosome being generally favourable for some (eg, trisomy 7) and poor for others (eg, trisomy 22). In the presence of a RAT, pregnancy-associated plasma protein-A is predictive of placental dysfunction and fetal growth restriction.