First live birth in Greece after blastocyst trophectoderm biopsy and preimplantation genetic testing for hereditary angioedema

Preimplantation genetic testing for monogenic/single-gene defects (PGT-M) is a well established tool in assisted reproduction. A couple, where the male was carrier of the c.550G>A (p.Gly184Arg) mutation of the SERPING 1 gene causing hereditary angioedema (HAE) attended our clinic for PGT-M. Employing a strategy of preserving embryos after blastocyst trophectoderm biopsy by vitrification cryopreservation, we managed to screen 10 embryos collected from a single IVF cycle. Three embryos were found unaffected after preimplantation genetic analysis for the paternal mutation. The transfer of one normal blastocyst post-thaw resulted in a healthy and uneventful pregnancy and in the live birth of a male neonate on the 38th week of pregnancy. This is the first report of a live birth in Greece after blastocyst trophectoderm biopsy and preimplantation genetic analysis for hereditary angioedema.

Surviving cancer or future motherhood? Both are possible: an Ewing sarcoma case in an 8-year-old girl

Ewing’s sarcoma is an aggressive tumour, common in paediatric age, in which treatment often implies a decrease in reproductive potential. We describe a case of a woman who had a lumbar Ewing’s Sarcoma in 1991, at the age of 8. She was submitted to extended tumourectomy, chemotherapy and local radiotherapy without preservation techniques. In adult life, and after two in vitro fertilization (IVF) reproductive cycles without success, she spontaneously conceived at the age of 32. After an uneventful pregnancy, she delivered a healthy child by caesarean section. This is a rare successful case of a spontaneous and uneventful pregnancy without previous preservation techniques. In the last 30 years, there has been significant development in this area, and currently, there are solutions for these patients, including in prepubertal age.

Spontaneous Foetal Intracranial Haemorrhage: Scrutinising the Inscrutable

The incidence of major Intracranial Haemorrhage (ICH) is not the common finding in a post-mortem of stillborn. Subdural haemorrhage is mainly associated with obstetric trauma. Minor subarachnoid haemorrhage is observed in cases of intrapartum asphyxia and prematurity. It is very uncommon to find ICH in a foetus who has died before onset of labour. ICH is rare in low risk patient with no history of trauma, hypertensive disorder of pregnancy, coagulation disorder and drug abuse. Here, authors presents a case of 30-year-old female patient whohad uneventful pregnancy till term when she had sudden intrauterine foetal demise without any precipitating cause. Autopsy of the foetus revealed spontaneous ICH, which included subdural and subarachnoid haemorrhage along with scalp haematoma.

Hemoperitoneum during Pregnancy: A Rare Case of Spontaneous Rupture of the Uterine Artery

Spontaneous rupture of the uterine artery is a rare cause of hemoperitoneum during pregnancy. This is a life-threatening condition associated with maternal and fetal mortality. We describe a case of spontaneous rupture of the left uterine artery in a 32-year-old healthy pregnant woman with an uneventful pregnancy.

The Bombay Blood Group: How Rare is It? A Case Report and a Review of the Literature

The Bombay blood group is a rare type of blood group which is very distinct from the ABO system and was first discovered in India about five decades ago. This blood group describes individuals who lack the H antigen and thus present with the anti H antibodies in addition to anti A and anti B antibodies. Bombay blood group is sometimes mistaken for blood group O. The significance of this blood group is in its ability to potentially cause fatal blood transfusion reaction and haemolytic disease of the foetus and the neonate. Aim: This case report aims to elucidate the rare occurrence of the Bombay blood group. Methods: We describe a case report of the pregnancy, labour and delivery of a multiparous Indian woman with the Bombay blood group in her second pregnancy. Results: The index case had an uneventful pregnancy, labour and delivery without the need for blood transfusion. The neonate was Rhesus D positive and did not have any complications. Conclusion: Bombay blood group is a rare blood group which can lead to blood transfusion reactions and haemolytic disease of the foetus and newborn. Pregnancy, labour and delivery should be managed in a unit with the availability of anti H blood to avoid foetal and maternal complications.

A Rare Case Report of a Consecutive Rib Fractures as an Isolated Obstetrical Complication

AIM: The aim of the following paper is to present the case of a term neonate with consecutive posterior rib fractures as an isolated finding after birth. METHODS: In the medical literature, there have been reported some sporadic cases indicating rib fractures in neonates. We present literature review and report a rare case of consecutive posterior rib fractures in neonate born following an uneventful pregnancy and uncomplicated labor. MAIN FINDING: The most common factors that can lead to rib fractures are birth trauma, cardiopulmonary resuscitation, and underlying disorders influencing bone development. In the presented case, there were no signs of other bone fractures or systems involved. CONCLUSION: Isolated form of consecutive posterior rib fracture after birth is a rare obstetrical complication. It is most likely caused by birth trauma but should be interpreted as a clinical sign of the potential syndrome. A decision whether to perform an X-ray depends on a physical examination of the newborn within the 1st h of life.

A Rare Genetic Diseases; Incontinentia Pigmenti: A Case Report

A 3 years-old girl, born of a 25-year-old mother, and of 30-year-old father, with a 1st degree consanguineous marriage. She was born full term after an uneventful pregnancy. History of similar disease was not present in her family. The parents consulted pour management of skin lesion. with no associated functional signs including no mental retardation, no epilepsy. they report that her skin had been fiery red at the birth time and vesicles had developed shortly afterwards. Then the lesions had cleared gradually and left linear hypo-pigmentation. On clinical examination, showed a facial asymmetry, especially mandibular. Hypopigmented atrophic streaks were seen in her face abdomen, back and limbs, with a baschko-linear path. And she had a syndactyly from the toes of the feet. And. The disease was diagnosed as Incontinentia pigmenti (IP). The ophthalmic exam was normal. Her genetic counseling was otherwise normal. A dental radio-panoramic, and MRI of the cerebral, and lumbosacral spine have been requested.

Wunderlich’s syndrome in pregnancy: a shocking triad

Wunderlich’s syndrome, non-traumatic renal haemorrhage into the subscapular and perinephric space, in pregnancy, is a very rare clinical entity. We describe a case of Wunderlich’s syndrome in a 29-year-old gravida 5 para 4 who presented to our emergency department with sudden onset severe left flank pain. On assessment, she was clinically shocked—hypotensive, tachycardic and perfused poorly peripherally. Ultrasound of the abdomen and pelvis and subsequent MRI of the left kidney revealed a large hypervascular exophytic lesion arising from the left renal pole—appearance consistent with an angiomyolipoma. This specific presentation is clinically characterised as Lenk’s triad—acute flank pain, flank mass and hypovolaemic shock. The patient was adequately resuscitated and interventional radiological embolisation of the mass was performed. She went on to have an uneventful pregnancy and delivered vaginally after induction at 38 weeks of gestation.