Altarescu Gheona, Barenholz Orit, Renbaum Paul, Beeri Rachel, Levy-Lahad Ephrat, Margalioth Ehud J, Brooks Baruch, Varshaver Irit, Eldar-Geva Talia
Preimplantation Genetic Unit, Zohar PGD Lab, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
J Pediatr Endocrinol Metab. 2011;24(7-8):543-8. doi: 10.1515/jpem.2011.262.
To develop a reliable and accurate preimplantation genetic diagnosis (PGD) method in six families with endocrine diseases: persistent hyperinsulinemic hypoglycemia of infancy (PHHI), congenital adrenal hyperplasia (CAH) salt-wasting form, Sanjat-Sakati syndrome and multiple endocrine neoplasia 2A (MEN 2A).
For each disease a battery of at least four informative markers surrounding the tested gene were identified and for each family a protocol of multiplex fluorescent markers was developed and performed on single cells.
PGD for PHHI was performed in three families. In family 1 two healthy children were born from different cycles, in family 2 three healthy children were born from two cycles, and in family 3 a healthy boy was born. For CAH in one family a healthy girl was born. One PGD cycle for Sanjat-Sakati resulted in a clinical pregnancy that was terminated due to high nuccal translucency (46X0). For one family with MEN 2A disease, the eighth PGD cycle resulted in birth of healthy twins. In all children genetic confirmation of the healthy status was performed.
PGD is an effective method for preventing birth of affected children with endocrine disorders. Increasing the awareness of clinicians to the availability of these methods is most important.
为六个患有内分泌疾病的家庭开发一种可靠且准确的植入前基因诊断（PGD）方法，这些疾病包括：婴儿持续性高胰岛素血症低血糖症（PHHI）、先天性肾上腺皮质增生症（CAH）失盐型、桑贾特 - 萨卡蒂综合征和多发性内分泌腺瘤病2A（MEN 2A）。
对于每种疾病，在被检测基因周围鉴定出至少四个信息性标记，并为每个家庭开发了一种多重荧光标记方案，并在单细胞上进行操作。
对三个家庭进行了PHHI的PGD。在家庭1中，通过不同周期出生了两个健康孩子；在家庭2中，通过两个周期出生了三个健康孩子；在家庭3中，出生了一个健康男孩。对于一个患有CAH的家庭，出生了一个健康女孩。一次针对桑贾特 - 萨卡蒂综合征的PGD周期导致临床妊娠，但由于高颈部透明带（46,X0）而终止。对于一个患有MEN 2A疾病的家庭，第八次PGD周期导致健康双胞胎出生。对所有孩子都进行了健康状况的基因确认。
PGD是预防患有内分泌疾病的患儿出生的有效方法。提高临床医生对这些方法可用性的认识至关重要。
